Bloc1s6

Summary

Gene Symbol: Bloc1s6
Description: biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
Alias: BLOC-1, Pldn, Stx13bp1, biogenesis of lysosome-related organelles complex 1 subunit 6, BLOC-1 subunit 6, biogenesis of organelles complex-1, subunit 6, pallidin, pallid protein, pallidin, syntaxin 13 binding protein 1, syntaxin 13-interacting protein pallid
Species: mouse

Top Publications

  1. pmc The dysbindin-containing complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins and role in neurite outgrowth
    C A Ghiani
    Mental Retardation Research Center, Jane and Terry Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA 90095 7332, USA
    Mol Psychiatry 15:115, 204-15. 2010
  2. ncbi Endothelial dysfunction in murine model of systemic sclerosis: tight-skin mice 1
    I Marie
    Department of Zoology and Animal Biology, University of Geneva, Sciences III, 30 Quai Ernest Ansermet, 1211 Geneva 4, Switzerland
    J Invest Dermatol 119:1379-87. 2002
  3. pmc TNF is a key mediator of septic encephalopathy acting through its receptor, TNF receptor-1
    Jessy J Alexander
    Department of Medicine, University of Chicago, 5841 South Maryland Avenue, MC5100, Chicago, IL 60637, USA
    Neurochem Int 52:447-56. 2008
  4. ncbi Lack of endothelial cell apoptosis in the dermis of tight skin 1 and tight skin 2 mice
    R Sgonc
    University of Innsbruck, Austria
    Arthritis Rheum 42:581-4. 1999
  5. ncbi BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules
    Juan M Falcon-Perez
    Department of Human Genetics, UCLA School of Medicine, Los Angeles, California 90095, USA
    J Biol Chem 277:28191-9. 2002
  6. pmc Hermansky-Pudlak syndrome protein complexes associate with phosphatidylinositol 4-kinase type II alpha in neuronal and non-neuronal cells
    Gloria Salazar
    Department of Cell Biology and Medicine, Emory University, Atlanta, Georgia 30322, USA
    J Biol Chem 284:1790-802. 2009
  7. pmc Hermansky-Pudlak protein complexes, AP-3 and BLOC-1, differentially regulate presynaptic composition in the striatum and hippocampus
    Karen Newell-Litwa
    Graduate Program in Biochemistry, Cell, and Developmental Biology, Emory University, Atlanta, Georgia 30322, USA
    J Neurosci 30:820-31. 2010
  8. pmc BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles
    Subba Rao Gangi Setty
    Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
    Mol Biol Cell 18:768-80. 2007
  9. pmc BLOC-1 complex deficiency alters the targeting of adaptor protein complex-3 cargoes
    G Salazar
    Department of Cell Biology, Emory University, Atlanta, GA 30322, USA
    Mol Biol Cell 17:4014-26. 2006
  10. pmc Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of mouse coat pigmentation
    Diego J Hoyle
    Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA
    Pigment Cell Melanoma Res 24:275-81. 2011

Scientific Experts

  • R T Swank
  • C A Ghiani
  • Jessy J Alexander
  • I Marie
  • U Griesenbach
  • Luanne L Peters
  • MICHAEL GARY ANDERSON
  • Nicole Endlich
  • Michael S Marks
  • Ronghua Meng
  • ESTEBAN C DELL'ANGELICA
  • Jennifer Larimore
  • Victor Faundez
  • Wei Li
  • Juan M Falcon-Perez
  • Yoland Smith
  • Raphael Lemaire
  • Yuhuan Wang
  • Zhe Zhang
  • Anand Sitaram
  • Avanti Gokhale
  • Graca Raposo
  • Marta Starcevic
  • Julie Bayle
  • Subba Rao Gangi Setty
  • Elena V Sviderskaya
  • Dorothy C Bennett
  • Robert Lafyatis
  • Timothy J Stalker
  • Juan S Bonifacino
  • Charles S Abrams
  • William A Gahl
  • Marjan Huizing
  • Sang H Min
  • Mortimer Poncz
  • Dawn C Harper
  • Ai Hua Wei
  • Xin He
  • Lin Yang
  • Qing Yang
  • Kentaro Akiyama
  • Pearl V Ryder
  • Konrad Talbot
  • Adriana R Mantegazza
  • Edward K Novak
  • Diego J Hoyle
  • Ramin Nazarian
  • Jean Francois Pare
  • Babette Gwynn
  • Karen Newell-Litwa
  • Branch Craige
  • Daniele Tenza
  • Mitsuteru Yoshida
  • Gloria Salazar
  • Tong Xie
  • Wai Tsing Chan
  • Takashi Matsushita
  • Dorothee Weihrauch
  • Satoru Ito
  • G Salazar
  • L Huang
  • Xinhua Yu
  • M Lynn Lamoreux
  • Giovanna Bossi
  • Sherri M Jones
  • Kengo Moriyama
  • Steven L Ciciotte
  • Lawrence F Brass
  • Jie Wu
  • M Anna Kowalska
  • Rashi Gautam
  • Gary Koretzky
  • Rohan Joshi
  • Jessica F Guzman
  • Liang Zhao
  • Matthew J Riese
  • Aae Suzuki
  • Lurong Lian
  • Suhong Zhang
  • Steven H Seeholzer
  • John K Choi
  • Michael P McGarry
  • Chris McKennan
  • Dong Jie Zang
  • Yi Wang
  • In Hyun Park
  • Xuan Zhu Liu
  • L Alex Ambrose
  • Christopher Chapleau
  • Zhi yong Zhou

Detail Information

Publications94

  1. pmc The dysbindin-containing complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins and role in neurite outgrowth
    C A Ghiani
    Mental Retardation Research Center, Jane and Terry Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA 90095 7332, USA
    Mol Psychiatry 15:115, 204-15. 2010
    ....
  2. ncbi Endothelial dysfunction in murine model of systemic sclerosis: tight-skin mice 1
    I Marie
    Department of Zoology and Animal Biology, University of Geneva, Sciences III, 30 Quai Ernest Ansermet, 1211 Geneva 4, Switzerland
    J Invest Dermatol 119:1379-87. 2002
    ....
  3. pmc TNF is a key mediator of septic encephalopathy acting through its receptor, TNF receptor-1
    Jessy J Alexander
    Department of Medicine, University of Chicago, 5841 South Maryland Avenue, MC5100, Chicago, IL 60637, USA
    Neurochem Int 52:447-56. 2008
    ....
  4. ncbi Lack of endothelial cell apoptosis in the dermis of tight skin 1 and tight skin 2 mice
    R Sgonc
    University of Innsbruck, Austria
    Arthritis Rheum 42:581-4. 1999
  5. ncbi BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules
    Juan M Falcon-Perez
    Department of Human Genetics, UCLA School of Medicine, Los Angeles, California 90095, USA
    J Biol Chem 277:28191-9. 2002
    ..We report that these two proteins, pallidin and muted, are components of a novel protein complex...
  6. pmc Hermansky-Pudlak syndrome protein complexes associate with phosphatidylinositol 4-kinase type II alpha in neuronal and non-neuronal cells
    Gloria Salazar
    Department of Cell Biology and Medicine, Emory University, Atlanta, Georgia 30322, USA
    J Biol Chem 284:1790-802. 2009
    ..These results suggest that AP-3 and BLOC-1 act, either in concert or sequentially, to specify sorting of PI4KIIalpha along the endocytic route...
  7. pmc Hermansky-Pudlak protein complexes, AP-3 and BLOC-1, differentially regulate presynaptic composition in the striatum and hippocampus
    Karen Newell-Litwa
    Graduate Program in Biochemistry, Cell, and Developmental Biology, Emory University, Atlanta, Georgia 30322, USA
    J Neurosci 30:820-31. 2010
    ..Loss-of-function alleles of BLOC-1, Pldn(pa/pa), and Muted(mu/mu) revealed that this complex acts as a brain-region-specific regulator of AP-3...
  8. pmc BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles
    Subba Rao Gangi Setty
    Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
    Mol Biol Cell 18:768-80. 2007
    ....
  9. pmc BLOC-1 complex deficiency alters the targeting of adaptor protein complex-3 cargoes
    G Salazar
    Department of Cell Biology, Emory University, Atlanta, GA 30322, USA
    Mol Biol Cell 17:4014-26. 2006
    ..These results indicate that the BLOC-1 and AP-3 protein complexes affect the targeting of SNARE and non-SNARE AP-3 cargoes and suggest a function of the BLOC-1 complex in membrane protein sorting...
  10. pmc Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of mouse coat pigmentation
    Diego J Hoyle
    Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA
    Pigment Cell Melanoma Res 24:275-81. 2011
    ..These observations suggest functional links between OCA2 and these three protein complexes involved in melanosome biogenesis...
  11. pmc The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapse
    Jennifer Larimore
    Department of Cell Biology, Emory University, Atlanta, GA 30322, USA
    Mol Biol Cell 22:4854-67. 2011
    ..Our findings indicate a novel vesicle transport mechanism requiring BLOC-1 and AP-3 complexes for cargo sorting from neuronal cell bodies to neurites and nerve terminals...
  12. pmc Quantitative proteomic and genetic analyses of the schizophrenia susceptibility factor dysbindin identify novel roles of the biogenesis of lysosome-related organelles complex 1
    Avanti Gokhale
    Department of Cell Biology, Emory University, Atlanta, Georgia 30322, USA
    J Neurosci 32:3697-711. 2012
    ..Thus, our quantitative proteomic studies expand the functional repertoire of the BLOC-1 complex and provide insight into putative molecular pathways of schizophrenia susceptibility...
  13. ncbi Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex
    Babette Gwynn
    The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, USA
    Blood 104:3181-9. 2004
    ..adaptor complex AP-3; biogenesis of lysosome-related organelles complex 1 (BLOC-1), consisting of 4 HPS proteins (pallidin, muted, cappuccino, HPS7/sandy); BLOC-2, consisting of HPS6/ruby-eye, HPS5/ruby-eye-2, and HPS3/cocoa; and BLOC-3,..
  14. ncbi Mouse models of Hermansky Pudlak syndrome: a review
    R T Swank
    Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, New York 14263, USA
    Pigment Cell Res 11:60-80. 1998
    ....
  15. pmc SLC35D3 delivery from megakaryocyte early endosomes is required for platelet dense granule biogenesis and is differentially defective in Hermansky-Pudlak syndrome models
    Ronghua Meng
    Department of Pathology and Laboratory Medicine, University of Pennsylvania, Perelman School of Medicine, 513 Stellar Chance Laboratories, 422 Curie Blvd, Philadelphia, PA 19104 6100, USA
    Blood 120:404-14. 2012
    ....
  16. pmc Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)
    Wei Li
    Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, New York 14263, USA
    Nat Genet 35:84-9. 2003
    ..9-11), which regulates trafficking to lysosome-related organelles and includes the proteins pallidin, muted and cappuccino, which are associated with HPS in mice...
  17. ncbi Normal lytic granule secretion by cytotoxic T lymphocytes deficient in BLOC-1, -2 and -3 and myosins Va, VIIa and XV
    Giovanna Bossi
    Sir William Dunn School of Pathology, South Parks Road, Oxford, OX1 3RE, UK
    Traffic 6:243-51. 2005
    ..These results reveal differences in the protein machinery required for biogenesis and/or secretion of lysosome-related organelles in CTL and melanocytes...
  18. ncbi The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency
    L Huang
    Howard Hughes Medical Institute and Department of Medicine, University of California, San Francisco, California 94143 0794, USA
    Nat Genet 23:329-32. 1999
    ..It encodes a ubiquitously expressed, highly charged 172-amino-acid protein (termed pallidin) with no homology to known proteins...
  19. ncbi Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1)
    Steven L Ciciotte
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Blood 101:4402-7. 2003
    ..that the wild-type cno gene encodes a novel, ubiquitously expressed cytoplasmic protein that coassembles with pallidin and the muted protein in the BLOC-1 complex. Further, we identify a frameshift mutation in mutant cno/cno mice...
  20. ncbi The pallid mouse. A model of genetic alpha 1-antitrypsin deficiency
    P A Martorana
    Cassella AG, Pharmaforschung, Frankfurt M, Germany
    Lab Invest 68:233-41. 1993
    ..We describe here a mouse model of genetic deficiency of alpha 1-antitrypsin in which emphysema occurs late in life...
  21. ncbi Effects of D-4F on vasodilation, oxidative stress, angiostatin, myocardial inflammation, and angiogenic potential in tight-skin mice
    Dorothee Weihrauch
    Cardiovascular Center, Medical College of Wisconsin, 8701 Watertown Plank Road, CVC M 4060, Milwaukee, WI 53226, USA
    Am J Physiol Heart Circ Physiol 293:H1432-41. 2007
    ..As SSc patients have increased plasma p-HDL and angiostatin levels similar to the Tsk(-/+) mice, D-4F may be effective at treating vascular complications in patients with SSc...
  22. ncbi Increased expression of Wnt2 and SFRP4 in Tsk mouse skin: role of Wnt signaling in altered dermal fibrillin deposition and systemic sclerosis
    Julie Bayle
    Department of Medicine, Rheumatology Section, Boston University School of Medicine, Arthritis Center, Boston, Massachusetts 02118, USA
    J Invest Dermatol 128:871-81. 2008
    ..Lesional skin from SSc patients also showed large increases in SFRP4 mRNA and protein levels in the deep dermis compared to healthy skin, suggesting that the Wnt pathway might regulate skin fibrosis in SSc...
  23. ncbi Linkage analyses and biochemical genetics of sorbitol dehydrogenase-1 (Sdh-1) in the mouse
    S J Andrews
    Biochem Genet 21:809-17. 1983
    ..9 +/- 1.4--pa--16.4 +/- 3.6--a--3.9 +/- 1.9--bp...
  24. pmc Defective release of α granule and lysosome contents from platelets in mouse Hermansky-Pudlak syndrome models
    Ronghua Meng
    Department of Pathology and Laboratory Medicine, Department of Physiology, and
    Blood 125:1623-32. 2015
    ....
  25. pmc Tight-skin, a new mutation of the mouse causing excessive growth of connective tissue and skeleton
    M C Green
    Am J Pathol 82:493-512. 1976
    ....
  26. pmc Loss of PIKfyve in platelets causes a lysosomal disease leading to inflammation and thrombosis in mice
    Sang H Min
    Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Nat Commun 5:4691. 2014
    ..Our findings identify PIKfyve as an essential regulator for platelet lysosome homeostasis, and demonstrate the contributions of platelet lysosomes to inflammation, arterial thrombosis and macrophage biology. ..
  27. pmc MeCP2 regulates the synaptic expression of a Dysbindin-BLOC-1 network component in mouse brain and human induced pluripotent stem cell-derived neurons
    Jennifer Larimore
    Department of Biology, Agnes Scott College, Decatur, Georgia, USA
    PLoS ONE 8:e65069. 2013
    ..We defined the distribution of the BLOC-1 subunit pallidin in human and mouse hippocampus and contrasted this distribution with that of symptomatic Mecp2 mutant mice...
  28. ncbi Genetic studies of murine catalase. Liver and erythrocyte catalase controlled by independent loci
    H A Hoffman
    J Hered 65:277-9. 1974
  29. ncbi Mucopolysaccharide synthesis in the developing inner ear of manganese-deficient and pallid mutant mice
    R E Shrader
    Teratology 8:257-66. 1973
  30. ncbi Small eyes (Sey): a homozygous lethal mutation on chromosome 2 which affects the differentiation of both lens and nasal placodes in the mouse
    B L Hogan
    J Embryol Exp Morphol 97:95-110. 1986
    ..Sey/Sey embryos develop to term but without eyes or nose, and die soon after birth. Further analysis of Sey/Sey embryos may throw light on the mechanisms underlying morphogenesis of craniofacial structures in mammals...
  31. ncbi A new regulatory gene in the histidine decarboxylase gene complex determines the responsiveness of the mouse kidney enzyme to testosterone
    R J Middleton
    Genet Res 49:61-7. 1987
  32. doi Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism
    Ai Hua Wei
    State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, China
    J Invest Dermatol 133:1834-40. 2013
    ..Our results suggest that SLC24A5 is a previously unreported nonsyndromic OCA candidate gene and that the SLC24A5 transporter is transported into mature melanosomes by HPS protein complexes...
  33. pmc Differential recognition of a dileucine-based sorting signal by AP-1 and AP-3 reveals a requirement for both BLOC-1 and AP-3 in delivery of OCA2 to melanosomes
    Anand Sitaram
    Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
    Mol Biol Cell 23:3178-92. 2012
    ..These data provide evidence for distinct roles of AP-1 and AP-3 in OCA2 transport to melanosomes and indicate that BLOC-1 can cooperate with either adaptor during cargo sorting to LROs...
  34. pmc Adaptor protein-3 in dendritic cells facilitates phagosomal toll-like receptor signaling and antigen presentation to CD4(+) T cells
    Adriana R Mantegazza
    Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
    Immunity 36:782-94. 2012
    ..We propose that AP-3-dependent TLR delivery from endosomes to phagosomes and subsequent signaling mobilize peptide:MHC-II export from intracellular stores...
  35. pmc Mesenchymal-stem-cell-induced immunoregulation involves FAS-ligand-/FAS-mediated T cell apoptosis
    Kentaro Akiyama
    Center for Craniofacial Molecular Biology, Ostrow School of Dentistry, University of Southern California, 2250 Alcazar Street, CSA 103, Los Angeles, CA 90033, USA
    Cell Stem Cell 10:544-55. 2012
    ..These data therefore demonstrate a previously unrecognized mechanism underlying BMMSC-based immunotherapy involving coupling via FAS/FASL to induce T cell apoptosis...
  36. pmc The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles
    Qing Yang
    State Key Laboratory of Molecular and Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, 100101, China
    Traffic 13:1160-9. 2012
    ..Mild defects in the melanosomes of the retinal pigment epithelia and in the platelet dense granules of the Kxd1-KO mouse were observed, mimicking a mouse model of mild Hermansky-Pudlak syndrome that affects the biogenesis of LROs...
  37. ncbi Isoform-selective upregulation of mast cell chymase in the development of skin fibrosis in scleroderma model mice
    E Kakizoe
    Department of Pharmacology, Shimane Medical University, Izumo, Shimane, Japan
    J Invest Dermatol 116:118-23. 2001
    ..These results strongly support the contention that the connective-tissue-type mast cell chymase plays a crucial role in fibroproliferative remodeling of the skin...
  38. doi Multidrug resistance decreases with mutations of melanosomal regulatory genes
    Tong Xie
    Department of Dermatology, University of California San Francisco, San Francisco, California, USA
    Cancer Res 69:992-9. 2009
    ..Independent mutations in three separate genes that regulate melanosome biogenesis (Dtnbp1, Pldn, Vps33a) also result in increased cis-platin sensitivity...
  39. pmc Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4
    Ramin Nazarian
    Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
    Proc Natl Acad Sci U S A 100:8770-5. 2003
    ..coat-color phenotype of young homozygous double-mutant mice deficient in subunits of BLOC-3 (HPS1) and BLOC-1 (pallidin) was indistinguishable from that of BLOC-1 single mutants...
  40. ncbi Linkage in the mouse: the sex-linked genes and Rough
    D S Falconer
    Z Indukt Abstamm Vererbungsl 86:263-8. 1954
  41. ncbi Gravity receptor function in mice with graded otoconial deficiencies
    Sherri M Jones
    School of Medicine, University of Missouri, Columbia, MO 65212, USA
    Hear Res 191:34-40. 2004
    ..It also shows that behavior alone may be an unreliable indicator of the extent of gravity receptor deficits...
  42. ncbi Fibulin-2 and fibulin-5 alterations in tsk mice associated with disorganized hypodermal elastic fibers and skin tethering
    Raphael Lemaire
    The Arthritis Center, Boston University School of Medicine, Boston, Massachusetts, USA
    J Invest Dermatol 123:1063-9. 2004
    ....
  43. pmc Early emphysema in the tight skin and pallid mice: roles of microfibril-associated glycoproteins, collagen, and mechanical forces
    Satoru Ito
    Department of Biomedical Engineering, Boston University, Boston, MA 02215, USA
    Am J Respir Cell Mol Biol 34:688-94. 2006
    ..Our findings suggest the possibility that MAGP-2-related abnormal collagen assembly, combined with mechanical forces, is involved in the progression of emphysema in the Tsk mice...
  44. pmc Antagonistic effect of the matricellular signaling protein CCN3 on TGF-beta- and Wnt-mediated fibrillinogenesis in systemic sclerosis and Marfan syndrome
    Raphael Lemaire
    Rheumatology Section, The Arthritis Center, Boston University School of Medicine, 72 E Newton Street, Boston, MA 02218, USA
    J Invest Dermatol 130:1514-23. 2010
    ..Together, these data indicate that CCN3 counter-regulates positive signals from TGF-beta and Wnt for fibrillin fibrillogenesis and profibrotic gene expression...
  45. ncbi BAFF antagonist attenuates the development of skin fibrosis in tight-skin mice
    Takashi Matsushita
    Department of Dermatology, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan
    J Invest Dermatol 127:2772-80. 2007
    ..The results suggest that BAFF/BAFF receptor system is critical for the development of skin fibrosis in TSK/+ mice and could be a potent therapeutical target...
  46. doi Functional evaluation of pallid mice with genetic emphysema
    Mitsuteru Yoshida
    Department of Thoracic, Endocrine Surgery and Oncology, Institute of Health Bioscience, The University of Tokushima Graduate School, Tokushima, Japan
    Lab Invest 89:760-8. 2009
    ..The deterioration in the exercise capacity and pulmonary function preceded the microscopic morphological changes...
  47. doi Validation of nasal potential difference measurements in gut-corrected CF knockout mice
    Uta Griesenbach
    Department of Gene Therapy, Faculty of Medicine, National Heart and Lung Institute, Imperial College London, London, United Kingdom
    Am J Respir Cell Mol Biol 39:490-6. 2008
    ..These data should allow a more informed use of CF animals in future studies...
  48. pmc Murine leukemia virus spreading in mice impaired in the biogenesis of secretory lysosomes and Ca2+-regulated exocytosis
    Wai Tsing Chan
    Section of Microbial Pathogenesis, Yale University School of Medicine, New Haven, Connecticut, United States of America
    PLoS ONE 3:e2713. 2008
    ..Retroviruses have been observed to bud intracellularly into multivesicular bodies (MVB), in addition to the plasma membrane. Release from MVB is thought to occur by Ca(2+)-regulated fusion with the plasma membrane...
  49. pmc Iris phenotypes and pigment dispersion caused by genes influencing pigmentation
    Michael G Anderson
    Department of Molecular Physiology and Biophysics, University of Iowa, Iowa City, IA, USA
    Pigment Cell Melanoma Res 21:565-78. 2008
    ..Combined, these findings illustrate the utility of studying iris phenotypes as a means of discovering new pathways, and re-linking old ones, to processes of pigmented cells in health and disease...
  50. ncbi Abnormal bone production associated with mutant mouse genes pa and we
    R J Graff
    J Hered 77:109-13. 1986
    ..The posited synergism is further supported by the finding that we, which functions as a recessive gene in mice of the pa/+ genotype, appears to function as a dominant gene in mice possessing the pa/pa genotype...
  51. ncbi Pigment mutations in the mouse which also affect lysosomal functions lead to suppressed natural killer cell activity
    A Orn
    Scand J Immunol 15:305-10. 1982
    ..This would indicate that pigment mutations with a parallel impact on lysosomal enzyme activities probably always result in a reduction in natural killer cell activity...
  52. ncbi Pulmonary pathologies in pallid mice result from nonhematopoietic defects
    Michael P McGarry
    Department of Biochemistry and Molecular Biology, S C Johnson Research Building, Scottsdale, Arizona 85259, USA
    Exp Mol Pathol 72:213-20. 2002
    ....
  53. ncbi The behavior and vestibular nuclear morphology of otoconia-deficient pallid mutant mice
    D R Trune
    J Neurogenet 1:53-69. 1983
    ..It was tentatively concluded that the sensory deprivation resulting from reduced gravity receptor input was responsible for the behavioral and central morphological abnormalities...
  54. ncbi Anorexia, a recessive mutation causing starvation in preweanling mice
    L J Maltais
    J Hered 75:468-72. 1984
    ..Data suggest that the mutant mice are not ingesting the levels of nutrients necessary to sustain life. This mutation may provide an important tool for studying the neurobiology of suckling behavior in the preweanling animal...
  55. ncbi Location of the mouse beta 2-microglobulin gene B2m determined by linkage analysis
    P J Robinson
    Immunogenetics 14:449-52. 1981
  56. ncbi The fine structure of melanogenesis in coat color mutants of the mouse
    V J Hearing
    J Ultrastruct Res 43:88-106. 1973
  57. ncbi Correction of symptoms of platelet storage pool deficiency in animal models for Chediak-Higashi syndrome and Hermansky-Pudlak syndrome
    E K Novak
    Blood 66:1196-201. 1985
    ..Also, the studies suggest that in severe cases, platelet SPD may be successfully treated by bone marrow transplantation...
  58. ncbi Further experience of the mouse dominant cataract mutation test from an experiment with ethylnitrosourea
    J D West
    Mutat Res 164:127-36. 1986
    ..However, it seems likely that the high false positive rate will continue to be a serious drawback to this test system...
  59. pmc Evidence for a major cluster of lymphocyte differentiation antigens on murine chromosome 2
    D Meruelo
    Proc Natl Acad Sci U S A 79:7460-4. 1982
    ..In addition, at least one locus (and probably more) affecting susceptibility to leukemia induction is found within this gene cluster...
  60. ncbi Localization of the inosine triphosphatase locus (Itp) on chromosome 2 of the mouse
    B A Taylor
    Biochem Genet 25:267-74. 1987
    ..The mapping of Itp on chromosome 2 identifies a chromosomal segment that has been conserved since the divergence of lineages leading to mouse and man...
  61. ncbi Localization of Blvr, biliverdin reductase, on mouse chromosome 2
    J Peters
    M R C Radiobiology Unit, Didcot, Oxon, United Kingdom
    Genomics 5:270-4. 1989
    ....
  62. pmc Amino acid sequence of mouse nidogen, a multidomain basement membrane protein with binding activity for laminin, collagen IV and cells
    K Mann
    Max Planck Institut fur Biochemie, Martinsried, FRG
    EMBO J 8:65-72. 1989
    ..The latter was shown to be functional in cell attachment to nidogen. Binding sites for laminin and collagen IV are present on the C-terminal globule but not yet precisely localized...
  63. pmc Interaction of the murine dilute suppressor gene (dsu) with fourteen coat color mutations
    K J Moore
    Mammalian Genetics Laboratory, NCI Frederick Cancer Research Facility, Maryland 21701
    Genetics 125:421-30. 1990
    ..These studies have thus identified a second group of genes whose phenotypes are suppressed by dsu and have provided new insights into the mechanism of action of dsu...
  64. ncbi The mouse mutation ulnaless on chromosome 2
    M T Davisson
    Jackson Laboratory, Bar Harbor, Maine 04609
    J Hered 81:151-3. 1990
    ..Penetrance appears to be complete, but the homozygote is not known, as heterozygous males do not breed. We report the linkage of the Ul gene on Chromosome 2, 18 cM proximal to pallid (pa), and describe its phenotypic effects...
  65. ncbi Additional mapping of mouse chromosome 2 genes
    R J Graff
    Department of Surgery, St Louis University School of Medicine, Mo 63110 0250
    Immunogenetics 33:96-100. 1991
    ..Hd-1 typing indicated that Hd-1 maps distal to [H-42, H-44] and proximal to un. The gene order [pa, B2m, H-3], we, [H-42, H-45], Hd-1, un, H-13, at, with H-44 mapping centromeric to Hd-1, is indicated by the data...
  66. ncbi Mapping the mouse craniofacial mutation first arch (Far) to chromosome 2
    D M Juriloff
    Department of Medical Genetics, University of British Columbia, Vancouver, B C Canada
    J Hered 82:402-5. 1991
    ..It may therefore be significant that, in mapping near Ulnaless, Far also maps in the vicinity of the Hox-4 gene cluster...
  67. ncbi Platelet storage pool deficiency associated with inherited abnormalities of the inner ear in the mouse pigment mutants muted and mocha
    R T Swank
    Department of Molecular and Cell Biology, Roswell Park Cancer Institute, Buffalo, NY 14263
    Blood 78:2036-44. 1991
    ....
  68. ncbi Interaction of genes and metals in development
    L S Hurley
    Fed Proc 35:2271-5. 1976
    ..It is proposed that in man as in animals teratogenesis might involve genetic-nutritional interactions as well as multifractorial interactions including genes, nutrients, drugs, and other environmental agents...
  69. ncbi Pallid mice with genetic emphysema. Neutrophil elastase burden and elastin loss occur without alteration in the bronchoalveolar lavage cell population
    M M de Santi
    Institute of Pathological Anatomy, University of Siena, Italy
    Lab Invest 73:40-7. 1995
    ..We describe here the changes in alveolar elastolytic burden and in the bronchoalveolar lavage (BAL) cell population, which precede and accompany the development of emphysema in pallid mice...
  70. ncbi cDNA sequence, gene sequence, and properties of murine pallidin (band 4.2), the protein implicated in the murine pallid mutation
    C Korsgren
    Department of Biomedical Research, St Elizabeth s Medical Center of Boston, Massachusetts 02135
    Genomics 21:478-85. 1994
    ..2 cDNA sequence containing an open reading frame of 2073 bp and coding for 691 amino acids. This is the same size as the human erythrocyte protein, with which the murine protein shares a 72% amino acid identity...
  71. pmc Lysosomal dysfunctions associated with mutations at mouse pigment genes
    E K Novak
    Genetics 92:189-204. 1979
    ..The mechanism of action of these genes is amenable to further analysis since they have been incorporated into congenic inbred strains of mice...
  72. ncbi Tight-skin (Tsk) maps on mouse chromosome 2 within the region of linkage homology with human chromosome 15
    R C Doute
    DVA Medical Center, Newington, Connecticut 06111
    Genomics 22:223-5. 1994
    ..To facilitate the positional cloning of Tsk, an interspecific backcross between C57BL/6J Tsk/+ and Mus spretus has been conducted. Our data link Tsk to cloned genetic markers and indicate the order pa-B2m-Tsk-Fbn-1-II-1a-a...
  73. ncbi Induction of skin fibrosis and autoantibodies by infusion of immunocompetent cells from tight skin mice into C57BL/6 Pa/Pa mice
    R G Phelps
    Department of Microbiology, Mount Sinai School of Medicine, New York, NY 10029 6574
    J Autoimmun 6:701-18. 1993
    ..Our results strongly demonstrate, for the first time, that immunocompetent cells can play a role in the activation of collagen synthesis leading to skin fibrosis...
  74. ncbi A role for T helper 2 cells in mediating skin fibrosis in tight-skin mice
    C J Ong
    Department of Microbiology and Immunology, University of British Columbia, Vancouver, British Columbia, V6T 1Z3, Canada
    Cell Immunol 196:60-8. 1999
    ..2 gene segment by T cells was sufficient to prevent skin fibrosis in Tsk/+ mice. This result suggests that the exclusive use of this Vbeta gene segment by T cells may have prevented the development of fibrosis-causing Th2 cells...
  75. ncbi Survival and lung pathology of mouse models of Hermansky-Pudlak syndrome and Chediak-Higashi syndrome
    M P McGarry
    Department of Laboratoy Animal Resource, Roswell Park Cancer Institute, Buffalo, New York 14263, USA
    Proc Soc Exp Biol Med 220:162-8. 1999
    ....
  76. pmc Neutrophil lysosomal dysfunctions in mutant C57 Bl/6J mice: interstrain variations in content of lysosomal elastase, cathepsin G and their inhibitors
    C Gardi
    Institute of General Pathology, University of Siena, Italy
    Biochem J 299:237-45. 1994
    ....
  77. ncbi A novel gene involved in zinc transport is deficient in the lethal milk mouse
    L Huang
    Howard Hughes Medical Institute, University of California, San Francisco 94143, USA
    Nat Genet 17:292-7. 1997
    ..The lethal milk mutant has a nonsense mutation at arginine codon 297 in the Znt4 gene...
  78. ncbi Continued mapping of chromosome 2 genes
    R J Graff
    Department of Surgery, St Louis University School of Medicine, Mo 63110 0250
    Immunogenetics 40:21-6. 1994
    ..The order of the bracketed genes is not known. H-44 maps centromeric to IR-H-Y. The genes encoding the antigens that stimulate lymphocyte clones 2G7, 2C10, 1F6, 1B10, and 1H10 map centromeric to H-45...
  79. ncbi Studies of the cellular immune response to heparan sulfate proteoglycan in the tight skin mouse
    A Dimitriu-Bona
    Department of Geriatrics and Adult Development, Mount Sinai Medical Center, New York, New York 10029 6574
    Cell Immunol 150:321-32. 1993
    ..Further studies are necessary to determine the mechanisms which link autoimmunity to HSPG with the pathology seen in TSK mice, particularly the overproduction of extracellular matrix and fibrosis...
  80. ncbi The gene encoding protein 4.2 is distinct from the mouse platelet storage pool deficiency mutation pallid
    B Gwynn
    The Jackson Laboratory, Bar Harbor, Maine 04609, USA
    Genomics 42:532-5. 1997
    ..2 mRNA. As the pa mutation originally arose in a wild M. domesticus mouse, we conclude that the Epb4.2 mRNA characteristic of pallid is a normal polymorphism derived from its wild ancestor and that Epb4.2 and pa are distinct loci...
  81. ncbi A scanning electron microscopic investigation of genetic emphysema in tight-skin, pallid, and beige mice, three different C57 BL/6J mutants
    M Keil
    Hoechst AG, Pharma Development Pathology, Frankfurt Main, Germany
    Lab Invest 74:353-62. 1996
    ..In Tsk mice, high Np values were observed at all ages, whereas in pa mice Np was increased only late in life when the pulmonary lesion develops. These differences indicate different pathogenetic mechanisms for these three mutants...
  82. ncbi The pallidin (Pldn) gene and the role of SNARE proteins in melanosome biogenesis
    Juan M Falcon-Perez
    Department of Human Genetics, University of California at Los Angeles UCLA School of Medicine, 90095, USA
    Pigment Cell Res 15:82-6. 2002
    This review focuses on the product of the pallidin (Pldn) gene, one of a number of genes that in mice are associated with pigmentation defects and platelet dense granule deficiency...
  83. ncbi Order of genes in the 5th linkage group of the house mouse
    R Borger
    Nature 166:697. 1950
  84. pmc Recombination suppression by heterozygous Robertsonian chromosomes in the mouse
    M T Davisson
    Jackson Laboratory, Bar Harbor, Maine 04609
    Genetics 133:649-67. 1993
    ..Our control linkage studies using C-band (heterochromatin) markers for the centromeric region provide improved estimates for the centromere-to-first-locus distance in mouse chromosomes 1, 2 and 16...
  85. ncbi Distribution and dynamics of Lamp1-containing endocytic organelles in fibroblasts deficient in BLOC-3
    Juan M Falcon-Perez
    Department of Human Genetics, University of California, Los Angeles, CA 90095, USA
    J Cell Sci 118:5243-55. 2005
    ..These results suggest that BLOC-3 function is required, directly or indirectly, for optimal attachment of late endocytic organelles to microtubule-dependent motors...
  86. ncbi A mutation influencing the transportation of manganese, L-dopa, and L-tryptophan
    G C Cotzias
    Science 176:410-2. 1972
    ..Transportation of manganese, L-dopa, and L-tryptophan was slower through the tissues, of intact pallid mice than through those of black C57Bl/6J mice, presumably because of the influence of the gene pallid...
  87. ncbi Fine mapping of collagen-induced arthritis quantitative trait loci in an advanced intercross line
    Xinhua Yu
    Immunogenetics Group, University of Rostock, Rostock, Germany
    J Immunol 177:7042-9. 2006
    ..In addition, this study revealed that Cia27 and Trmq3 controlling anti-CII IgG2a Ab and CD4:CD8 T cell ratio, respectively, also regulated CIA clinical phenotypes...
  88. doi Palladin is a dynamic actin-associated protein in podocytes
    Nicole Endlich
    Department of Anatomy and Cell Biology, University of Greifswald, Greifswald, Germany
    Kidney Int 75:214-26. 2009
    ..Our study shows that palladin is expressed in podocytes and plays an important role in actin dynamics...
  89. ncbi Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci
    E K Novak
    Blood 63:536-44. 1984
    ..Also, the results emphasize the genetic, morphological, and functional interrelatedness of three organelles: melanosomes, lysosomes, and platelet dense granules...
  90. ncbi Lack of skin fibrosis in tight skin (TSK) mice with targeted mutation in the interleukin-4R alpha and transforming growth factor-beta genes
    T McGaha
    Department of Microbiology, Mount Sinai School of Medicine, New York, New York 10029, USA
    J Invest Dermatol 116:136-43. 2001
    ....
  91. ncbi The murine pallid mutation is a platelet storage pool disease associated with the protein 4.2 (pallidin) gene
    R A White
    Division of Hematology Oncology, Children s Hospital, Boston, Massachusetts
    Nat Genet 2:80-3. 1992
    ..This is the first gene defect to be associated with a platelet storage pool deficiency, and may allow the identification of a novel structure or biological pathway that influences granulogenesis...
  92. pmc Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa
    M E McLaughlin
    Howe Laboratory of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114, USA
    Proc Natl Acad Sci U S A 92:3249-53. 1995
    ..Mutations in the gene encoding the beta subunit of rod phosphodiesterase are the most common identified cause of autosomal recessive retinitis pigmentosa, accounting for approximately 4% of cases in North America...