Ha

Summary

Gene Symbol: Ha
Description: spectrin alpha, erythrocytic 1
Alias: AF093576, AI451697, Spna-1, Spna1, ihj, nmf4, sph, spectrin alpha chain, erythrocytic 1, alpha-spectrin 1, erythroid, erythroid alpha-spectrin, hemolytic anemia, neuroscience mutagenesis facility, 4, spectrin alpha 1, spectrin alpha chain, erythrocyte, spherocytosis
Species: mouse

Top Publications

  1. pmc Targeted deletion of alpha-adducin results in absent beta- and gamma-adducin, compensated hemolytic anemia, and lethal hydrocephalus in mice
    Raymond F Robledo
    The Jackson Laboratory, Bar Harbor, ME, USA
    Blood 112:4298-307. 2008
  2. pmc Changing patterns in cytoskeletal mRNA expression and protein synthesis during murine erythropoiesis in vivo
    L L Peters
    Jackson Laboratory, Bar Harbor, ME 04609
    Proc Natl Acad Sci U S A 89:5749-53. 1992
  3. pmc αII-spectrin regulates invadosome stability and extracellular matrix degradation
    Aurélie Ponceau
    Institut National de la Transfusion Sanguine, INSERM UMR S 665, Paris, France, Universite Paris 7 Denis Diderot, Paris, France
    PLoS ONE 10:e0120781. 2015
  4. pmc Expression specificity of the mouse exonuclease 1 (mExo1) gene
    B I Lee
    Molecular and Structural Biology Division, Biology and Biotechnology Research Program, L 452, Lawrence Livermore National Laboratory, Livermore, CA 94551 9900, USA
    Nucleic Acids Res 27:4114-20. 1999
  5. ncbi Definition of mouse chromosome 1 and 3 gene linkage groups that are conserved on human chromosome 1: evidence that a conserved linkage group spans the centromere of human chromosome 1
    W S Moseley
    Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710
    Genomics 5:899-905. 1989
  6. ncbi Physical mapping of a family of interferon-activated genes, serum amyloid P-component, and alpha-spectrin on mouse chromosome 1
    S F Kingsmore
    Department of Medicine, Duke University, Durham, NC 27710
    Immunogenetics 30:169-74. 1989
  7. ncbi Interferons as gene activators: a cluster of six interferon-activatable genes is linked to the erythroid alpha-spectrin locus on murine chromosome 1
    G Opdenakker
    Department of Molecular Biophysics, Yale University, New Haven, Connecticut 06511
    Virology 171:568-78. 1989
  8. pmc Structure, expression, and genetic linkage of the mouse BCM1 (OX45 or Blast-1) antigen. Evidence for genetic duplication giving rise to the BCM1 region on mouse chromosome 1 and the CD2/LFA3 region on mouse chromosome 3
    Y W Wong
    Medical Research Council Cellular Immunology Research Unit, Sir William Dunn School of Pathology, University of Oxford, England
    J Exp Med 171:2115-30. 1990
  9. ncbi Novel murine homeo box gene on chromosome 1 expressed in specific hematopoietic lineages and during embryogenesis
    J D Allen
    Walter and Eliza Hall Institute of Medical Research, PO Royal Melbourne Hospital, Australia
    Genes Dev 5:509-20. 1991
  10. pmc Ankrd6 is a mammalian functional homolog of Drosophila planar cell polarity gene diego and regulates coordinated cellular orientation in the mouse inner ear
    Chonnettia Jones
    Department of Cell Biology, Emory University, Atlanta, GA 30322, USA Electronic address
    Dev Biol 395:62-72. 2014

Scientific Experts

  • Kong Nan Zhao
  • H Nakano
  • L Robb
  • Benyam Asefa
  • J L Spearow
  • Nancy J Wandersee
  • Raymond F Robledo
  • Narla Mohandas
  • N J Wandersee
  • Conor W Sipe
  • Anne C Frei
  • Luanne L Peters
  • Jianghong Wu
  • Aurélie Ponceau
  • J E Barker
  • Chonnettia Jones
  • Madelyn S Hanson
  • Weiyan Peng
  • Michael C Stankewich
  • Sunita Patel-Hett
  • Deron W Jones
  • Kirkwood A Pritchard
  • Neil Hogg
  • Catherine Korsgren
  • Samuel E Lux
  • Jean M Sanger
  • Xiaowei Lu
  • Cynthia M Grimsley-Myers
  • M Estela Campanella
  • Diana M Gilligan
  • Connie S Birkenmeier
  • Douglas G Nilson
  • David M Bodine
  • A Mullick
  • Chenfeng Chen
  • Olivier Destaing
  • Yves Colin-Aronovicz
  • Marie Christine Lecomte
  • Paul P Masci
  • Martin F Lavin
  • Jiezhong Chen
  • Corinne Albiges-Rizo
  • Dong Qian
  • Sun Myoung Kim
  • Ping Chen
  • Fumio Matsuzaki
  • David Sprinzak
  • Fanglu Chi
  • Shuangding Li
  • DongDong Ren
  • Karen B Avraham
  • Lindsey Knapp
  • Dawn Retherford
  • Cheryl A Hillery
  • Sandra L Holzhauer
  • Timothy C Flewelen
  • Hao Xu
  • Xiuli An
  • Lanping Amy Sung
  • Carol D Cianci
  • Anjali Nath
  • John H Hartwig
  • Hongbei Wang
  • Eva C Alden
  • Paul R Stabach
  • N Mohandas
  • Antonija J Begonja
  • Joseph E Italiano
  • Jon S Morrow
  • Lan Ji
  • Jonathan N Thon
  • Andreea Flavia M Cirlan
  • Jushuo Wang
  • Dean R Campagna
  • Victoria Zhukareva
  • Dipak K Dube
  • Prokash Chowrashi
  • Marius V Cirlan
  • Joseph W Sanger
  • Lisa M Gleason
  • Balraj Mittal
  • Amy J Lambert
  • P Gros
  • Gwenaëlle S G Géléoc
  • Babette Gwynn
  • D A Underhill
  • Philip S Low
  • M F Seldin
  • Kenneth E Sahr
  • Karen A Fagan

Detail Information

Publications74

  1. pmc Targeted deletion of alpha-adducin results in absent beta- and gamma-adducin, compensated hemolytic anemia, and lethal hydrocephalus in mice
    Raymond F Robledo
    The Jackson Laboratory, Bar Harbor, ME, USA
    Blood 112:4298-307. 2008
    ..Similarly, gamma-adducin is absent in alpha-null platelets. alpha-Adducin-null mice display compensated hemolytic anemia with features characteristic of RBCs in hereditary spherocytosis (HS), including spherocytes with significant ..
  2. pmc Changing patterns in cytoskeletal mRNA expression and protein synthesis during murine erythropoiesis in vivo
    L L Peters
    Jackson Laboratory, Bar Harbor, ME 04609
    Proc Natl Acad Sci U S A 89:5749-53. 1992
    ....
  3. pmc αII-spectrin regulates invadosome stability and extracellular matrix degradation
    Aurélie Ponceau
    Institut National de la Transfusion Sanguine, INSERM UMR S 665, Paris, France, Universite Paris 7 Denis Diderot, Paris, France
    PLoS ONE 10:e0120781. 2015
    ..Altogether, these data highlight a new function for spectrins in the stability of invadosomes and the coupling between actin regulation and ECM degradation. ..
  4. pmc Expression specificity of the mouse exonuclease 1 (mExo1) gene
    B I Lee
    Molecular and Structural Biology Division, Biology and Biotechnology Research Program, L 452, Lawrence Livermore National Laboratory, Livermore, CA 94551 9900, USA
    Nucleic Acids Res 27:4114-20. 1999
    ....
  5. ncbi Definition of mouse chromosome 1 and 3 gene linkage groups that are conserved on human chromosome 1: evidence that a conserved linkage group spans the centromere of human chromosome 1
    W S Moseley
    Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710
    Genomics 5:899-905. 1989
    ..These studies provide a model for examination of specific evolutionary events...
  6. ncbi Physical mapping of a family of interferon-activated genes, serum amyloid P-component, and alpha-spectrin on mouse chromosome 1
    S F Kingsmore
    Department of Medicine, Duke University, Durham, NC 27710
    Immunogenetics 30:169-74. 1989
    ..These studies suggest the possibility that selective pressure may maintain in physical proximity gene clusters which are under coordinate transcriptional control...
  7. ncbi Interferons as gene activators: a cluster of six interferon-activatable genes is linked to the erythroid alpha-spectrin locus on murine chromosome 1
    G Opdenakker
    Department of Molecular Biophysics, Yale University, New Haven, Connecticut 06511
    Virology 171:568-78. 1989
    ..These results indicate the existence of a cluster of at least six closely linked, interferon-activatable genes on distal murine chromosome 1 in the vicinity of the Spna-1 locus and also of the Minor lymphocyte stimulating locus (Mlsa)...
  8. pmc Structure, expression, and genetic linkage of the mouse BCM1 (OX45 or Blast-1) antigen. Evidence for genetic duplication giving rise to the BCM1 region on mouse chromosome 1 and the CD2/LFA3 region on mouse chromosome 3
    Y W Wong
    Medical Research Council Cellular Immunology Research Unit, Sir William Dunn School of Pathology, University of Oxford, England
    J Exp Med 171:2115-30. 1990
    ....
  9. ncbi Novel murine homeo box gene on chromosome 1 expressed in specific hematopoietic lineages and during embryogenesis
    J D Allen
    Walter and Eliza Hall Institute of Medical Research, PO Royal Melbourne Hospital, Australia
    Genes Dev 5:509-20. 1991
    ..It probably also functions outside the hematopoietic system, however, because Hlx mRNA could be detected in diverse adult tissues and in embryos from as early as day 8 of development...
  10. pmc Ankrd6 is a mammalian functional homolog of Drosophila planar cell polarity gene diego and regulates coordinated cellular orientation in the mouse inner ear
    Chonnettia Jones
    Department of Cell Biology, Emory University, Atlanta, GA 30322, USA Electronic address
    Dev Biol 395:62-72. 2014
    ..Together, these results indicated that mAnkrd6 is a functional homolog of the Drosophila diego gene for mammalian PCP regulation and act to suppress canonical Wnt signaling. ..
  11. doi β-Adducin siRNA disruption of the spectrin-based cytoskeleton in differentiating keratinocytes prevented by calcium acting through calmodulin/epidermal growth factor receptor/cadherin pathway
    Jianghong Wu
    Centre for Kidney Disease Research Venomics Research, The University of Queensland School of Medicine, Translational Research Institute, 37 Kent Street, Woolloongabba, Brisbane, QLD 4102, Australia
    Cell Signal 27:15-25. 2015
    ....
  12. pmc A novel hemoglobin-binding peptide reduces cell-free hemoglobin in murine hemolytic anemia
    Madelyn S Hanson
    Department of Biophysics and Redox Biology Program, Medical College of Wisconsin, Milwaukee, WI, USA
    Am J Physiol Heart Circ Physiol 304:H328-36. 2013
    ..in two models of chronic hemolysis: Berkeley sickle cell disease (SS) mice and mice with severe hereditary spherocytosis (HS)...
  13. ncbi Physical association between Src homology 3 elements and the protein product of the c-cbl proto-oncogene
    O M Rivero-Lezcano
    Laboratory of Cellular Development and Oncology, NIDR, National Institutes of Health, Bethesda, Maryland 20892
    J Biol Chem 269:17363-6. 1994
    ..Moreover, it was possible to demonstrate an in vivo association between p47nck and p120c-cbl in HL60 cells. These findings suggest that proteins containing SH3 elements regulate Cbl function...
  14. pmc Arg/Abl-binding protein, a Z-body and Z-band protein, binds sarcomeric, costameric, and signaling molecules
    Jean M Sanger
    Department of Cell and Developmental Biology, SUNY Upstate Medical University, Syracuse, New York 13210, USA
    Cytoskeleton (Hoboken) 67:808-23. 2010
    ..Our results indicate that ArgBP2 may play an important role in the assembly and maintenance of myofibrils in cardiomyocytes...
  15. pmc Cell organization, growth, and neural and cardiac development require αII-spectrin
    Michael C Stankewich
    Department of Pathology, Yale University School of Medicine, 310 Cedar St BML 150, New Haven, CT 06520, USA
    J Cell Sci 124:3956-66. 2011
    ..These data indicate that the spectrin-ankyrin scaffold is crucial in vertebrates for cell spreading, tissue patterning and organ development, particularly in the developing brain and heart, but is not required for cell viability...
  16. pmc Disruption of spectrin-like cytoskeleton in differentiating keratinocytes by PKCδ activation is associated with phosphorylated adducin
    Kong Nan Zhao
    University of Queensland Centre for Clinical Research, The University of Queensland, Brisbane, Queensland, Australia
    PLoS ONE 6:e28267. 2011
    ....
  17. pmc Rapid capping in alpha-spectrin-deficient MEL cells from mice afflicted with hereditary hemolytic anemia
    S C Dahl
    Department of Biology, Johns Hopkins University, Baltimore, Maryland 21218
    J Cell Biol 125:1057-65. 1994
    ..that possess complex cytoskeletons, we have generated alpha-spectrin-deficient erythroleukemia cell lines from sph/sph mice...
  18. ncbi Human TNF receptor-associated factor 5 (TRAF5): cDNA cloning, expression and assignment of the TRAF5 gene to chromosome 1q32
    H Nakano
    Department of Immunology, Juntendo University School of Medicine, Tokyo, Japan
    Genomics 42:26-32. 1997
    ..Fluorescence in situ hybridization confirmed regional localization to human chromosome 1q32...
  19. ncbi Plasmodium yoelii: resistance to disease is linked to the mtv-7 locus in BALB/c mice
    C J Swardson
    Department of Pathology, College of Veterinary Medicine and Biomedical Sciences, Colorado State University, Fort Collins 80523, USA
    Exp Parasitol 86:102-9. 1997
    ..These mice differ in their response to anemia, which may contribute to their differential susceptibility to disease; however, no influence of mtv-7 reactive T cells was documented...
  20. ncbi Localization of the mouse glucocorticoid receptor-interacting protein 1 gene (Grip1) to proximal chromosome 1 by linkage analysis
    C L Welch
    Department of Medicine, University of California, Los Angeles, California 90095, USA
    Mamm Genome 8:620-1. 1997
  21. ncbi Assignment of the glial inwardly rectifying potassium channel KAB-2/Kir4.1 (Kcnj10) gene to the distal region of mouse chromosome 1
    Y Tada
    Faculty of Medicine, Osaka University, 2 2 Yamadaoka, Suita, Osaka, 565, Japan
    Genomics 45:629-30. 1997
  22. ncbi Thrombosis and secondary hemochromatosis play major roles in the pathogenesis of jaundiced and spherocytic mice, murine models for hereditary spherocytosis
    T M Kaysser
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Blood 90:4610-9. 1997
    Jaundiced mice, ja/ja, suffer from a severe hemolytic anemia caused by a complete deficiency of erythroid beta-spectrin...
  23. ncbi Fine mapping of the human pentraxin gene region on chromosome 1q23
    M T Walsh
    Department of Genetics and Biotechnology Institute, University of Dublin, Trinity College, Dublin, Ireland
    Immunogenetics 44:62-9. 1996
    ..The gene order is cen.-SPTA1-H4F2-H3F2-IFI-16-CRP-CRPP1-APCS -FCER1A- tel. The contig thus consists of a cluster of genes whose products either have immunological importance, bind DNA, or both...
  24. ncbi Erythroid phosphatidyl serine exposure is not predictive of thrombotic risk in mice with hemolytic anemia
    N J Wandersee
    The Jackson Laboratory, Bar Harbor, Maine 04609, USA
    Blood Cells Mol Dis 26:75-83. 2000
    ..major complication of human hemolytic anemias such as sickle cell disease, thalassemia, and severe hereditary spherocytosis (HS)...
  25. ncbi Cloning, expression analysis, and chromosomal localization of murine and human homologues of a Xenopus mix gene
    L Robb
    The Walter and Eliza Hall Institute of Medical Research, PO Royal Melbourne Hospital, Victoria, Australia
    Dev Dyn 219:497-504. 2000
    ..0, in the caudal notochord and tail bud mesoderm. Mix transcripts were no longer detectable after embryonic day 9.5...
  26. ncbi Defective spectrin integrity and neonatal thrombosis in the first mouse model for severe hereditary elliptocytosis
    N J Wandersee
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Blood 97:543-50. 2001
    ..elliptocytosis (HE), whereas a deficiency of human erythroid alpha- or beta-spectrin results in hereditary spherocytosis (HS). All spontaneous mutant mice with cytoskeletal deficiencies of spectrin reported to date have HS...
  27. ncbi Murine recessive hereditary spherocytosis, sph/sph, is caused by a mutation in the erythroid alpha-spectrin gene
    N J Wandersee
    The Jackson Laboratory, 600 Main St, Bar Harbor, Maine 04609, USA
    Hematol J 1:235-42. 2000
    ..The mouse mutation, sph, causes an alpha-spectrin-deficient hereditary spherocytosis with the severe phenotype typical of recessive hereditary spherocytosis in humans...
  28. ncbi Mutations in the murine erythroid alpha-spectrin gene alter spectrin mRNA and protein levels and spectrin incorporation into the red blood cell membrane skeleton
    Nancy J Wandersee
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Blood 101:325-30. 2003
    ..Deficiencies of either alpha- or beta-spectrin can result in severe hereditary spherocytosis (HS) or hereditary elliptocytosis (HE) in mice and humans...
  29. ncbi The interferon-inducible p200 family of proteins: a perspective on their roles in cell cycle regulation and differentiation
    Benyam Asefa
    Laboratory of Molecular Immunoregulation, National Cancer Institute at Frederick, Frederick, MD 21702 1201, USA
    Blood Cells Mol Dis 32:155-67. 2004
    ..Here, we describe the structure and biological activities of these proteins, and discuss recent studies that describe their relevant roles in processes regulating cell proliferation and differentiation...
  30. ncbi Major erythrocyte membrane protein genes in EKLF-deficient mice
    Douglas G Nilson
    Hematopoiesis Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Exp Hematol 34:705-12. 2006
    ..The objectives of this study were to rescue EKLF-deficient embryos with mice expressing gamma-globin from beta-spectrin or ankyrin promoters and to characterize expression of the major erythrocyte membrane genes in EKLF-deficient cells...
  31. pmc Vascular dysfunction in a murine model of severe hemolysis
    Anne C Frei
    Blood Research Institute, Blood Center of Wisconsin, Milwaukee, Wisconsin, USA
    Blood 112:398-405. 2008
    Spectrin is the backbone of the erythroid cytoskeleton; sph/sph mice have severe hereditary spherocytosis (HS) because of a mutation in the murine erythroid alpha-spectrin gene...
  32. pmc Characterization of glycolytic enzyme interactions with murine erythrocyte membranes in wild-type and membrane protein knockout mice
    M Estela Campanella
    Department of Chemistry, Purdue University, West Lafayette, IN 47907, USA
    Blood 112:3900-6. 2008
    ..These data suggest that oxygenation-dependent assembly of GEs on the membrane could be a general phenomenon of mammalian erythrocytes and that stability of these interactions depends primarily on band 3...
  33. pmc The small GTPase Rac1 regulates auditory hair cell morphogenesis
    Cynthia M Grimsley-Myers
    Department of Cell Biology, University of Virginia, Charlottesville, Virginia 22908, USA
    J Neurosci 29:15859-69. 2009
    ..Together, these results reveal a critical function of Rac1 in morphogenesis of the auditory sensory epithelium and stereociliary bundle...
  34. pmc Analysis of novel sph (spherocytosis) alleles in mice reveals allele-specific loss of band 3 and adducin in alpha-spectrin-deficient red cells
    Raymond F Robledo
    The Jackson Laboratory, Bar Harbor, ME, USA
    Blood 115:1804-14. 2010
    ..All cause severe hemolytic anemia. Here, analysis of 3 new alleles reveals previously unknown consequences of red blood cell (RBC) spectrin ..
  35. pmc The carboxyterminal EF domain of erythroid alpha-spectrin is necessary for optimal spectrin-actin binding
    Catherine Korsgren
    Division of Hematology Oncology, Department of Medicine, Children s Hospital Boston, Boston, MA 02115, USA
    Blood 116:2600-7. 2010
    ..The severely anemic sph(1J)/sph(1J) mouse has very fragile red cells and lacks the last 13 amino acids in the EF domain, implying that the ..
  36. doi RGD-containing ankyrin externalized onto the cell surface triggers αVβ3 integrin-mediated erythrophagocytosis
    Weiyan Peng
    Department of Bioengineering, University of California, San Diego, CA 92093 0412, USA
    Biochem Biophys Res Commun 407:466-71. 2011
    ..Thus, externalization of ankyrin followed by RGD/integrin recognition may be a novel mechanism by which erythrocytes adhere to macrophages preceding phagocytosis...
  37. pmc The spectrin-based membrane skeleton stabilizes mouse megakaryocyte membrane systems and is essential for proplatelet and platelet formation
    Sunita Patel-Hett
    Translational Medicine Division, Department of Medicine, Brigham and Women s Hospital, Boston, MA, USA
    Blood 118:1641-52. 2011
    ..The results of this study provide evidence for a role for spectrin in different steps of megakaryocyte development through its participation in the formation of invaginated membranes and in the maintenance of proplatelet structure...
  38. pmc Kif3a regulates planar polarization of auditory hair cells through both ciliary and non-ciliary mechanisms
    Conor W Sipe
    Department of Cell Biology, University of Virginia Health System, Charlottesville, VA 22908, USA
    Development 138:3441-9. 2011
    ....
  39. ncbi Mapping of alpha-spectrin on distal mouse chromosome 1
    M F Seldin
    Cytogenet Cell Genet 45:52-4. 1987
    ..Studies of five recombinant inbred strains and (C57BL/6 X M. spretus) F1 X C57BL/6 backcross mice demonstrated that these RFLPs were allelic and that Spna-1 is closely linked to Ly-9 and Ly-17 on the distal region of chromosome 1...
  40. pmc Chromosomal location of three spectrin genes: relationship to the inherited hemolytic anemias of mouse and man
    C S Birkenmeier
    Jackson Laboratory, Bar Harbor, ME 04609
    Proc Natl Acad Sci U S A 85:8121-5. 1988
    Three genetic loci in the mouse affect the synthesis and assembly of the erythrocyte membrane skeleton. The spherocytosis and jaundiced loci affect the membrane skeletal protein known as spectrin...
  41. ncbi Genetic relationships of Mlsa among polymorphic loci on distal mouse chromosome 1
    M F Seldin
    Department of Medicine, Duke University Medical Center, Durham, NC 27710
    J Immunogenet 15:59-66. 1988
    ..The identification of multiple polymorphic loci in the region of Mlsa should allow precise gene localization and assist in efforts to clone this gene...
  42. ncbi Sequence comparison of human and murine erythrocyte alpha-spectrin cDNA
    P J Curtis
    Gene 36:357-62. 1985
    ....
  43. pmc The alpha-spectrin gene is on chromosome 1 in mouse and man
    K Huebner
    Proc Natl Acad Sci U S A 82:3790-3. 1985
    ..1 by DNA hybridization strengthens the previous identification of the alpha-spectrin locus in mouse with the sph locus, which previously was mapped by linkage analysis to mouse chromosome 1, distal to the Pep-3 locus...
  44. ncbi Receptors for Fc epsilon and Fc gamma are linked on mouse chromosome 1
    K Huppi
    Laboratory of Genetics, National Cancer Institute, Bethesda, MD 20892
    J Immunol 141:2807-10. 1988
    ..This finding raises the possibility that a family of Fc receptors could be found in a region that is known to contain immunologically important markers of lymphocyte surface Ag and autoimmune defects...
  45. ncbi Mapping of the bcl-2 oncogene on mouse chromosome 1
    B A Mock
    Laboratory of Genetics, National Cancer Institute, Bethesda, MD 20892
    Cytogenet Cell Genet 47:11-5. 1988
    ..The co-segregation of bcl-2 alleles with allelic forms of two other chromosome 1 loci, Ren-1,2 and Spna-1, in a set of back-cross progeny, positions bcl-2 7.8 cM centromeric from Ren-1,2...
  46. pmc Genetic analysis of autoimmune gld mice. I. Identification of a restriction fragment length polymorphism closely linked to the gld mutation within a conserved linkage group
    M F Seldin
    Cellular Immunology Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland 20892
    J Exp Med 167:688-93. 1988
    ..The identification of an RFLP closely linked to the gld gene provides a starting point for the identification of a genetic defect that results in abnormal T cells and autoimmune disease...
  47. pmc Genes encoding alpha and beta subunits of Na,K-ATPase are located on three different chromosomes in the mouse
    R B Kent
    Proc Natl Acad Sci U S A 84:5369-73. 1987
    ..The dispersion of Na,K-ATPase genes suggests that their expression is not likely to be controlled by a common cis-acting regulatory element...
  48. ncbi Establishment of a molecular genetic map of distal mouse chromosome 1: further definition of a conserved linkage group syntenic with human chromosome 1q
    M F Seldin
    Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710
    Genomics 2:48-56. 1988
    ..These results suggest that mouse gene analyses may help in detailed mapping of human genes within such a syntenic group...
  49. pmc A 6000 kb segment of chromosome 1 is conserved in human and mouse
    S F Kingsmore
    Department of Medicine, Duke University Medical Center, Durham, NC 27710
    EMBO J 8:4073-80. 1989
    ..In addition, these findings demonstrate profound conservation of genomic organization over mammalian evolution...
  50. ncbi Chromosomal location of the gene encoding the murine acute-phase protein serum amyloid P-component (SAP)
    N Maruyama
    Department of Pathology, Tokyo Metropolitan Institute of Gerontology, Japan
    Biochem Genet 27:229-37. 1989
    ..The Sap locus is the major genetic element contributing to the regulation of SAP production. Other genetic factors are also involved, as shown by the presence of nonparental phenotypes in the individual BXH RI strains...
  51. pmc Ath-2, a second gene determining atherosclerosis susceptibility and high density lipoprotein levels in mice
    B Paigen
    Children s Hospital Oakland Research Institute, Children s Hospital Medical Center, Oakland 94609
    Genetics 122:163-8. 1989
    ..The map position of Ath-2 is not known, but Ath-2 does not map near genes determining the apolipoproteins for A-I, A-II, or E...
  52. ncbi Altered lymphocyte populations in sphha/sphha mice with chronic hemolytic anemia
    L Maggio-Price
    Department of Comparative Medicine, University of Washington, Seattle 98195
    Cell Immunol 138:360-71. 1991
    ..in mutant anemic sphha/sphha mice that manifest a lifelong lymphocytosis which accompanies their chronic hemolytic anemia. Anemic mice have significant increases in CD4+, CD8+, and sIgM+ lymphocytes in peripheral blood...
  53. ncbi Resistance to malaria in ankyrin and spectrin deficient mice
    H L Shear
    Department of Medical and Molecular Parasitology, New York University School of Medicine, N Y
    Br J Haematol 78:555-60. 1991
    ..chabaudi adami, which invades mature erythrocytes and to P. berghei, which invades reticulocytes. Similarly, sph/sph mice which do not synthesize the alpha chain of spectrin but do synthesize ankyrin, were also resistant to both ..
  54. ncbi Localization of murine HLH gene NSCL to chromosome 1 by use of recombinant inbred strains
    N M Gough
    Walter and Eliza Hall Institute of Medical Research, Royal Melbourne Hospital, Victoria, Australia
    Mamm Genome 3:182-3. 1992
  55. ncbi Molecular pathology of inherited erythrocyte membrane disorders: hereditary spherocytosis and elliptocytosis
    A Iolascon
    Dipartimento di Pediatria, Clinica Pediatrica Ia, Universita, Napoli, Italy
    Haematologica 77:60-72. 1992
    Hereditary spherocytosis and elliptocytosis are common genetic defects of the red blood cell membrane skeleton. In recent years rapid advances have been made in the knowledge of the protein structure and assembly of the cytoskeleton...
  56. ncbi Construction of a physical map on mouse and human chromosome 1: comparison of 13 Mb of mouse and 11 Mb of human DNA
    R J Oakey
    Department of Medicine, Duke University Medical Center, Durham, NC 27710
    Hum Mol Genet 1:613-20. 1992
    ..These data support the use of comparative mapping in physical map construction and further suggest the value of using mouse genetics to help define human disease loci...
  57. ncbi A molecular genetic approach to gld "autoimmune" disease
    M F Seldin
    Curr Top Microbiol Immunol 137:227-32. 1988
  58. pmc Remarkable homology among the internal repeats of erythroid and nonerythroid spectrin
    C S Birkenmeier
    Proc Natl Acad Sci U S A 82:5671-5. 1985
    ..In this respect, the degree of homology found between them was unexpected. Our data suggest a common evolutionary origin for these two alpha-spectrins and allow some predictions concerning spectrin gene structure...
  59. ncbi Pyrrole pigments in normal and congenitally anaemic mice (+:+, W-W v , ha-ha, nb-nb, mk-mk, f-f and sla-Y)
    M Kreimer-Birnbaum
    Comp Biochem Physiol A Comp Physiol 43:21-30. 1972
  60. ncbi Hereditary disorders of the red cell in animals
    R M Bannerman
    Prog Hematol 8:131-79. 1973
  61. ncbi Spectrin deficient inherited hemolytic anemias in the mouse: characterization by spectrin synthesis and mRNA activity in reticulocytes
    D M Bodine
    Cell 37:721-9. 1984
    ..and mRNA activity in mice homozygous and heterozygous for six mutations occurring at three distinct loci (nb, ja, sph)...
  62. ncbi Influence of the apoA-II gene locus on HDL levels and fatty streak development in mice
    M Mehrabian
    Department of Medicine, University of California, Los Angeles 90024
    Arterioscler Thromb 13:1-10. 1993
    ..The results support the concept that increased synthesis of apoAII results in increased HDL cholesterol levels. Unexpectedly, increased expression of apoAII appeared to promote rather than retard aortic fatty streak development...
  63. ncbi Pathologic features associated with decreased longevity of mutant sphha/sphha mice with chronic hemolytic anemia: similarities to sequelae of sickle cell anemia in humans
    A Grossmann
    Department of Comparative Medicine, School of Medicine, University of Washington, Seattle 98195
    Lab Anim Sci 43:217-21. 1993
    A colony of sphha/sphha mice with congenital hemolytic anemia and an abnormality in erythrocyte spectrin assembly was screened to determine the cause of premature death...
  64. ncbi Studies of erythrocyte protoporphyrin in anemic mutant mice: use of a modified hematofluorometer for the detection of heterozygotes for hemolytic disease
    S Sassa
    Exp Hematol 6:479-87. 1978
    ....
  65. ncbi Erythropoiesis in ha/ha and sph/sph mice, mutants which produce spectrin-deficient erythrocytes
    D Brookoff
    Blood 59:646-51. 1982
    ..we studied the ultrastructure of bone marrow and spleen of ha/ha and sph/sph mice, two mutants with profound hemolytic anemia secondary to deficiency of the erythrocyte membrane protein spectrin...
  66. ncbi Increased cation permeability in mutant mouse red blood cells with defective membrane skeletons
    C H Joiner
    Department of Pediatrics, University of Cincinnati College of Medicine, OH, USA
    Blood 86:4307-14. 1995
    ..homeostasis in mouse erythrocytes with defective membrane skeletons was examined in three mouse mutants, hemolytic anemia (sphha/sphha), spherocytosis (sph/sph), and normoblastosis (nb/nb), and compared with reticulocytes produced ..
  67. ncbi High-resolution linkage map in the vicinity of the Lp locus
    A Mullick
    Department of Biochemistry, McGill University, Montreal, Quebec, Canada
    Genomics 26:479-88. 1995
    ..D1Mit36/D1Mit146/D1Mit147/D1Mit270 / D1Hun13-Fcgr2-Mpp-Apoa2/Fcer1 gamma-Lp-D1Mit149/Spna1/Fcer1 alpha-Eph1-Hlix1/D1Mit62...
  68. ncbi Increased proliferative capacity of CD4+ and CD8+ T lymphocytes from mutant sphha/sphha mice is associated with increased IL-2 receptor expression
    L Maggio-Price
    Department of Comparative Medicine, University of Washington, Seattle 98195
    Cell Immunol 148:346-56. 1993
    ..The mechanism for the abnormally high proliferative rate of T cells from anemic mice remains unclear, but we suggest that this mutant mouse may provide an important model for further studies on the molecular basis of T-cell replication...
  69. ncbi Nhlh1, a basic helix-loop-helix transcription factor, is very tightly linked to the mouse looptail (Lp) mutation
    A Mullick
    Department of Biochemistry, McGill University, Montreal, Quebec, Canada
    Mamm Genome 6:700-4. 1995
    ..6-cM segment defined as D1Mit113/Apoa2/Fcer1 gamma-(0.4 cM)-Nhlh1/Lp-(0.2 cM)-Fcer1 alpha/D1Mit149/Spna1. Nucleotide sequencing of Nhlh1 cDNA clones from wild type (WT) and Lp/Lp embryos failed to identify sequence ..
  70. ncbi Physical delineation of a 700-kb region overlapping the Looptail mutation on mouse chromosome 1
    D A Underhill
    Department of Biochemistry, McGill University, Montreal, Quebec, H3G 1Y6, Canada
    Genomics 55:185-93. 1999
    ..1 delineated by two clusters of markers, Fcer1gamma/Usf1/D1Mit113/D1Wsu1 on the proximal side and Fcer1alpha/Spna1/D1Mit149 distally...
  71. ncbi Mapping genes that control hormone-induced ovulation rate in mice
    J L Spearow
    Section of Neurobiology, Physiology and Behavior, University of California at Davis, Davis, California 95616, USA
    Biol Reprod 61:857-72. 1999
    ..These and closely linked syntenic molecular markers will enable a more accurate prediction of ovarian responsiveness to gonadotropins and provide selection criteria for improving reproductive performance in diverse mammalian species...
  72. ncbi Hemolytic anemia in the mouse. Report of a new mutation and clarification of its genetics
    A E Unger
    J Hered 74:88-92. 1983
    A new mutation causing spherocytic, hemolytic anemia has been discovered in the house mouse. It is inherited as a single autosomal recessive gene, allelic with both sph and ha, which, in turn, were shown to be allelic with each other...