Gene Symbol: Ap3b1
Description: adaptor-related protein complex 3, beta 1 subunit
Alias: AP-3, AU015684, C78395, Hps2, beta3A, pearl, rim2, AP-3 complex subunit beta-1, adapter-related protein complex 3 subunit beta-1, adaptor protein complex AP-3 beta-1 subunit, adaptor protein complex AP-3 subunit beta-1, adaptor-related protein complex 3 subunit beta-1, adaptor-related protein complex AP-3 beta 1 subunit, beta-3A-adaptin, beta3A-adaptin, clathrin assembly protein complex 3 beta-1 large chain, recombination induced mutation 2
Species: mouse
Products:     Ap3b1

Top Publications

  1. Swank R, Novak E, McGarry M, Zhang Y, Li W, Zhang Q, et al. Abnormal vesicular trafficking in mouse models of Hermansky-Pudlak syndrome. Pigment Cell Res. 2000;13 Suppl 8:59-67 pubmed
    ..The pearl (HPS2) and mocha genes encode the beta3A and delta subunits, respectively, of the AP-3 adaptor complex, which captures organelle membrane proteins at the ..
  2. Newell Litwa K, Salazar G, Smith Y, Faundez V. Roles of BLOC-1 and adaptor protein-3 complexes in cargo sorting to synaptic vesicles. Mol Biol Cell. 2009;20:1441-53 pubmed publisher
    ..Hermansky-Pudlak complexes involved in lysosomal biogenesis from early endosomes, the ubiquitous isoform of AP-3 (Ap3b1(-/-)) and muted, defective in the biogenesis of lysosome-related organelles complex 1 (BLOC-1), increased the ..
  3. Salazar G, Zlatic S, Craige B, Peden A, Pohl J, Faundez V. Hermansky-Pudlak syndrome protein complexes associate with phosphatidylinositol 4-kinase type II alpha in neuronal and non-neuronal cells. J Biol Chem. 2009;284:1790-802 pubmed publisher
    ..These results suggest that AP-3 and BLOC-1 act, either in concert or sequentially, to specify sorting of PI4KIIalpha along the endocytic route...
  4. Chapuy B, Tikkanen R, Mühlhausen C, Wenzel D, von Figura K, Honing S. AP-1 and AP-3 mediate sorting of melanosomal and lysosomal membrane proteins into distinct post-Golgi trafficking pathways. Traffic. 2008;9:1157-72 pubmed publisher
  5. Newell Litwa K, Seong E, Burmeister M, Faundez V. Neuronal and non-neuronal functions of the AP-3 sorting machinery. J Cell Sci. 2007;120:531-41 pubmed
  6. Seong E, Wainer B, Hughes E, Saunders T, Burmeister M, Faundez V. Genetic analysis of the neuronal and ubiquitous AP-3 adaptor complexes reveals divergent functions in brain. Mol Biol Cell. 2005;16:128-40 pubmed
    Neurons express adaptor (AP)-3 complexes assembled with either ubiquitous (beta3A) or neuronal-specific (beta3B) beta3 isoforms. However, it is unknown whether these complexes indeed perform distinct functions in neuronal tissue...
  7. Grabner C, Price S, Lysakowski A, Cahill A, Fox A. Regulation of large dense-core vesicle volume and neurotransmitter content mediated by adaptor protein 3. Proc Natl Acad Sci U S A. 2006;103:10035-40 pubmed
    ..AP-3 appears to localize in the trans-Golgi network and possibly immature secretory vesicles, where it may be involved in the formation of neurosecretory vesicles. ..
  8. Salazar G, Craige B, Styers M, Newell Litwa K, Doucette M, Wainer B, et al. BLOC-1 complex deficiency alters the targeting of adaptor protein complex-3 cargoes. Mol Biol Cell. 2006;17:4014-26 pubmed
    ..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. ..
  9. Feng L, Seymour A, Jiang S, To A, Peden A, Novak E, et al. The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness. Hum Mol Genet. 1999;8:323-30 pubmed
    Lysosomes, melanosomes and platelet-dense granules are abnormal in the mouse hypopigmentation mutant pearl. The beta3A subunit of the AP-3 adaptor complex, which likely regulates protein trafficking in the trans - Golgi network/endosomal ..

More Information


  1. Yang W, Li C, Ward D, Kaplan J, Mansour S. Defective organellar membrane protein trafficking in Ap3b1-deficient cells. J Cell Sci. 2000;113 ( Pt 22):4077-86 pubmed
    ..Molecular analyses show that Ap3b1, which encodes the AP-3 (&bgr;)3A subunit, is altered in pearl mice...
  2. Balkema G, Mangini N, Pinto L. Discrete visual defects in pearl mutant mice. Science. 1983;219:1085-7 pubmed
    The mutant mouse pearl, characterized by its hypopigmentation, has a specific functional defect in a sensory system--the retina. The intact pearl mouse has reduced sensitivity in the dark-adapted condition...
  3. Hao Z, Wei L, Feng Y, Chen X, Du W, Ma J, et al. Impaired maturation of large dense-core vesicles in muted-deficient adrenal chromaffin cells. J Cell Sci. 2015;128:1365-74 pubmed publisher
    ..In mu chromaffin cells, the size of readily releasable pool and the vesicle release frequency were reduced. Our studies suggest that the muted protein is involved in the selective export of CgA during the biogenesis of LDCVs. ..
  4. Vallejo M, Niemeyer G, Vaglenov A, Hock T, Urie B, Christopherson P, et al. Decreased hematopoietic progenitor cell mobilization in pearl mice. Exp Hematol. 2013;41:848-57 pubmed publisher
    ..The purpose of this study was to determine if pearl mice were neutropenic...
  5. Nakatsu F, Okada M, Mori F, Kumazawa N, Iwasa H, Zhu G, et al. Defective function of GABA-containing synaptic vesicles in mice lacking the AP-3B clathrin adaptor. J Cell Biol. 2004;167:293-302 pubmed
    ..Thus, AP-3B plays a critical role in the normal formation and function of a subset of synaptic vesicles. This work adds a new aspect to the pathogenesis of epilepsy. ..
  6. Del Prete A, Luganini A, Scutera S, Rossi S, Anselmo A, Greco D, et al. Interferon-α production by plasmacytoid dendritic cells is dispensable for an effective anti-cytomegalovirus response in adaptor protein-3-deficient mice. J Interferon Cytokine Res. 2015;35:232-8 pubmed publisher
    ..Likewise, pearl mice, which lack functional AP-3, show several HPS-2 defects...
  7. Novak E, Swank R. Lysosomal dysfunctions associated with mutations at mouse pigment genes. Genetics. 1979;92:189-204 pubmed
    ..5- to 2.5-fold increased concentrations of kidney beta-glucuronidase. Three mutants, pale ear, pearl and pallid, had a generalized effect on lysosomal enzymes since there were coordinate increases in kidney beta-..
  8. Sirkis D, Edwards R, Asensio C. Widespread dysregulation of peptide hormone release in mice lacking adaptor protein AP-3. PLoS Genet. 2013;9:e1003812 pubmed publisher
    ..In addition, we show that loss of the related adaptor protein AP-1 has a similar effect on regulated secretion but exacerbates the effect of AP-3 RNAi, suggesting distinct roles for the two adaptors in the regulated secretory pathway. ..
  9. Jessen B, Bode S, Ammann S, Chakravorty S, Davies G, Diestelhorst J, et al. The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2. Blood. 2013;121:2943-51 pubmed publisher
    ..We analyzed susceptibility to HLH in the pearl mouse model of HPS2...
  10. Rogers G, Shirley J, Zolotukhin I, Kumar S, Sherman A, Perrin G, et al. Plasmacytoid and conventional dendritic cells cooperate in crosspriming AAV capsid-specific CD8+ T cells. Blood. 2017;129:3184-3195 pubmed publisher
    ..Thus, these outcomes directly point to therapeutic interventions and demonstrate that innate immune blockade can eliminate unwanted immune responses in gene therapy. ..
  11. Balkema G, Mangini N, Pinto L, Vanable J. Visually evoked eye movements in mouse mutants and inbred strains. A screening report. Invest Ophthalmol Vis Sci. 1984;25:795-800 pubmed
    ..These findings show that many mutants with visual defects are available from existing holdings. These visual mutants may serve as a resource for the study of the function and development of the mammalian visual system. ..
  12. Panagis L, Zhao X, Ge Y, Ren L, Mittag T, Danias J. Gene expression changes in areas of focal loss of retinal ganglion cells in the retina of DBA/2J mice. Invest Ophthalmol Vis Sci. 2010;51:2024-34 pubmed publisher
    ..CO), adjacent areas with relative RGC preservation in DBA/2 retina, and Fluorogold-labeled retina from DBA/2(-pe) (pearl) mice were dissected and used for microarray analysis...
  13. Clark E, Shultz L, Pollack S. Mutations in mice that influence natural killer (NK) cell activity. Immunogenetics. 1981;12:601-13 pubmed
    ..Pigmentation mutants related to beige, including pale ears (ep), pearl (pe) and ruby eyes (ru2J) did not dramatically influence NK-cell levels...
  14. Elliott R, Daniel W, Taylor B, Novak E. Linkage of loci affecting a murine liver protein and arylsulfatase B to chromosome 13. J Hered. 1985;76:243-6 pubmed
    ..Both loci were found to have been cotransferred with the pearl (pe) coat color mutation (chromosome 13) in the B6.C3H pe/pe congenic strain...
  15. Meng R, Wu J, Harper D, Wang Y, Kowalska M, Abrams C, et al. Defective release of α granule and lysosome contents from platelets in mouse Hermansky-Pudlak syndrome models. Blood. 2015;125:1623-32 pubmed publisher
  16. Misawa H, Fujigaya H, Nishimura T, Moriwaki Y, Okuda T, Kawashima K, et al. Aberrant trafficking of the high-affinity choline transporter in AP-3-deficient mice. Eur J Neurosci. 2008;27:3109-17 pubmed publisher
    ..The amounts of CHT detected on SLMV are greatly reduced by treating the cell with agents that halt AP-dependent membrane trafficking. These results demonstrate that APs have important functions for CHT trafficking in neuronal cells. ..
  17. Akerfeldt M, Laybutt D. Inhibition of Id1 augments insulin secretion and protects against high-fat diet-induced glucose intolerance. Diabetes. 2011;60:2506-14 pubmed publisher
    ..Id1 expression plays an essential role in the etiology of glucose intolerance, insulin secretory dysfunction, and ?-cell dedifferentiation under conditions of increased lipid supply. ..
  18. Henault J, Martinez J, Riggs J, Tian J, Mehta P, Clarke L, et al. Noncanonical autophagy is required for type I interferon secretion in response to DNA-immune complexes. Immunity. 2012;37:986-997 pubmed publisher
  19. Larimore J, Tornieri K, Ryder P, Gokhale A, Zlatic S, Craige B, et al. The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapse. Mol Biol Cell. 2011;22:4854-67 pubmed publisher
    ..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...
  20. Alford J, Marongiu M, Watkins G, Anderson E. Human Immunodeficiency Virus Type 2 (HIV-2) Gag Is Trafficked in an AP-3 and AP-5 Dependent Manner. PLoS ONE. 2016;11:e0158941 pubmed publisher
    ..The differential requirement for adaptor protein complexes confirmed that HIV-1 and HIV-2 Gag have distinct cellular trafficking pathways, and that HIV-2 particles may be more susceptible to degradation prior to release. ..
  21. Cernadas M, Sugita M, van der Wel N, Cao X, Gumperz J, Maltsev S, et al. Lysosomal localization of murine CD1d mediated by AP-3 is necessary for NK T cell development. J Immunol. 2003;171:4149-55 pubmed
    ..Here we show the dominant mechanism for this trafficking is mediated by AP-3. ..
  22. Young L, Pasula R, Gulleman P, Deutsch G, McCormack F. Susceptibility of Hermansky-Pudlak mice to bleomycin-induced type II cell apoptosis and fibrosis. Am J Respir Cell Mol Biol. 2007;37:67-74 pubmed
    ..We have previously reported that "Pearl" (HPS2) and "Pale Ear" (HPS1) mouse models have pulmonary inflammatory dysregulation and ..
  23. Balkema G, Pinto L, Drager U, Vanable J. Characterization of abnormalities in the visual system of the mutant mouse pearl. J Neurosci. 1981;1:1320-9 pubmed
    Mice of the mutant strain pearl (pe/pe) differ from the wild strain by a single gene mutation, which leads to a lightening of the coat color...
  24. Falcon Perez J, Dell Angelica E. Zinc transporter 2 (SLC30A2) can suppress the vesicular zinc defect of adaptor protein 3-depleted fibroblasts by promoting zinc accumulation in lysosomes. Exp Cell Res. 2007;313:1473-83 pubmed
  25. Pak M, Giolli R, Pinto L, Mangini N, Gregory K, Vanable J. Retinopretectal and accessory optic projections of normal mice and the OKN-defective mutant mice beige, beige-J, and pearl. J Comp Neurol. 1987;258:435-46 pubmed
    ..Comp. Neurol. 241:191-209, '85). The mutants used were pearl, which exhibits an inverted OKN in response to stimulation of only the temporal retina, and beige and beige-J, ..
  26. Sweet H, Bronson R, Donahue L, Davisson M. Mesenchymal dysplasia: a recessive mutation on chromosome 13 of the mouse. J Hered. 1996;87:87-95 pubmed
    ..Mesenchymal dysplasia has been mapped to mouse chromosome (Chr) 13. These mapping crosses also confirmed that the Purkinje cell degeneration (pcd) mutation is on Chr 13. ..
  27. Jing R, Dong X, Li K, Yan J, Chen X, Feng L. The Ap3b1 gene regulates the ocular melanosome biogenesis and tyrosinase distribution differently from the Hps1 gene. Exp Eye Res. 2014;128:57-66 pubmed publisher
    Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder in humans and mice. The pearl (pe) mouse, a mouse model for the human HPS-2, bears a mutation in Ap3b1 gene...
  28. Azevedo C, Burton A, Ruiz Mateos E, Marsh M, Saiardi A. Inositol pyrophosphate mediated pyrophosphorylation of AP3B1 regulates HIV-1 Gag release. Proc Natl Acad Sci U S A. 2009;106:21161-6 pubmed publisher
    ..We have identified Kif3A, a motor protein of the kinesin superfamily, as an AP3B1-binding partner and demonstrate that Kif3A, like the AP-3 complex, is involved in an intracellular process ..
  29. Petnicki Ocwieja T, Kern A, Killpack T, Bunnell S, Hu L. Adaptor Protein-3-Mediated Trafficking of TLR2 Ligands Controls Specificity of Inflammatory Responses but Not Adaptor Complex Assembly. J Immunol. 2015;195:4331-40 pubmed publisher
    ..burgdorferi resulted in altered joint inflammation during murine Lyme arthritis. Our studies further elucidate the effects of phagosomal trafficking on tailoring immune responses in vitro and in vivo. ..
  30. Suzuki T, Li W, Zhang Q, Karim A, Novak E, Sviderskaya E, et al. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet. 2002;30:321-4 pubmed
    ..In addition, the HPS1 protein is absent in tissues of le mutant mice. These results suggest that the HPS4 and HPS1 proteins may function in the same pathway of organelle biogenesis. ..
  31. Novak E, Hui S, Swank R. Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci. Blood. 1984;63:536-44 pubmed
    ..In the present study, five other mutants with defective lysosomal enzyme secretion--pearl, pallid, light ear, maroon, and ruby-eye--were likewise found to have abnormally prolonged bleeding times after ..
  32. Wei A, Zang D, Zhang Z, Liu X, He X, Yang L, et al. Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism. J Invest Dermatol. 2013;133:1834-40 pubmed publisher
    ..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. Feng W, Madajka M, Kerr B, Mahabeleshwar G, Whiteheart S, Byzova T. A novel role for platelet secretion in angiogenesis: mediating bone marrow-derived cell mobilization and homing. Blood. 2011;117:3893-902 pubmed publisher
    ..nor platelet aggregation is crucial for BMDC homing and subsequent angiogenesis, as determined using VAMP-8(-/-), Pearl, and integrin Beta 3(-/-) platelets...
  34. Kook S, Wang P, Young L, Schwake M, Saftig P, Weng X, et al. Impaired Lysosomal Integral Membrane Protein 2-dependent Peroxiredoxin 6 Delivery to Lamellar Bodies Accounts for Altered Alveolar Phospholipid Content in Adaptor Protein-3-deficient pearl Mice. J Biol Chem. 2016;291:8414-27 pubmed publisher
    ..We now show that AT2 in the pearl mouse model of HPS type 2 lacking the adaptor protein 3 complex (AP-3) fails to accumulate the soluble enzyme ..
  35. Ahuja S, Knudsen L, Chillappagari S, Henneke I, Ruppert C, Korfei M, et al. MAP1LC3B overexpression protects against Hermansky-Pudlak syndrome type-1-induced defective autophagy in vitro. Am J Physiol Lung Cell Mol Physiol. 2016;310:L519-31 pubmed publisher
    ..We conclude that loss of HPS1 protein results in impaired autophagy that is restored by exogenous LC3B and that defective autophagy might therefore play a critical role in the development and progression of HPSIP. ..
  36. Poirier C, O Brien E, Bueno Brunialti A, Chambard J, Swank R, Guenet J. The gene encoding the thrombin receptor (Cf2r) maps to mouse chromosome 13. Mamm Genome. 1996;7:322 pubmed
  37. McGarry M, Reddington M, Novak E, Swank R. Survival and lung pathology of mouse models of Hermansky-Pudlak syndrome and Chediak-Higashi syndrome. Proc Soc Exp Biol Med. 1999;220:162-8 pubmed
    ..Mice doubly homozygous for the pale ear and ruby eye or for the muted and pearl genes had the shortest life spans with none surviving the two-year experimental duration...
  38. Sasai M, Linehan M, Iwasaki A. Bifurcation of Toll-like receptor 9 signaling by adaptor protein 3. Science. 2010;329:1530-4 pubmed publisher
    ..Our results reveal an intracellular mechanism for bifurcation of TLR9 signals by selective receptor trafficking within the endosomal system...
  39. Mantegazza A, Guttentag S, El Benna J, Sasai M, Iwasaki A, Shen H, et al. Adaptor protein-3 in dendritic cells facilitates phagosomal toll-like receptor signaling and antigen presentation to CD4(+) T cells. Immunity. 2012;36:782-94 pubmed publisher
    ..DCs from AP-3-deficient pearl mice elicited impaired CD4(+) T cell activation and Th1 effector cell function to particulate antigen in vitro ..
  40. Holcombe R, Stephenson D, Zweidler A, Stewart R, Chapman V, Seidman J. Linkage of loci associated with two pigment mutations on mouse chromosome 13. Genet Res. 1991;58:41-50 pubmed
    ..were typed to map multiple markers in relation to two pigment mutations on mouse chromosome 13, beige (bg) and pearl (pe). Both recessive mutants on a C57BL/6J background were crossed separately with laboratory strain PAC (M...
  41. Park E, Kim J, Seong R, Kim C, Park S, Hong S. Characterization of a novel mouse cDNA, ES18, involved in apoptotic cell death of T-cells. Nucleic Acids Res. 1999;27:1524-30 pubmed
    ..We further showed that transient overexpression of ES18 in mouse T-cell lymphoma increased the apoptotic cell death. These data suggest that ES18 may be selectively involved in specific apoptotic processes in mouse T-cells. ..
  42. Blasius A, Arnold C, Georgel P, Rutschmann S, Xia Y, Lin P, et al. Slc15a4, AP-3, and Hermansky-Pudlak syndrome proteins are required for Toll-like receptor signaling in plasmacytoid dendritic cells. Proc Natl Acad Sci U S A. 2010;107:19973-8 pubmed publisher
    ..These proteins are not necessary for TLR7 or TLR9 signaling in conventional DCs and thus comprise a membrane trafficking pathway uniquely required for endosomal TLR signaling in pDCs. ..
  43. Guttentag S, Akhtar A, Tao J, Atochina E, Rusiniak M, Swank R, et al. Defective surfactant secretion in a mouse model of Hermansky-Pudlak syndrome. Am J Respir Cell Mol Biol. 2005;33:14-21 pubmed
    ..Human case reports and a mouse model of HPS, the pale ear/pearl mouse (ep/pe), exhibit giant lamellar bodies (GLB) in type II alveolar epithelial cells...
  44. Sagai T, Koide T, Endo M, Tanoue K, Kikkawa Y, Yonekawa H, et al. rim2 (recombination-induced mutation 2) is a new allele of pearl and a mouse model of human Hermansky-Pudlak syndrome (HPS): genetic and physical mapping. Mamm Genome. 1998;9:2-7 pubmed
    ..We mapped the rim2 gene close to an old coat color mutation, pearl (pe), on Chromosome (Chr) 13 by the high-density linkage analysis...
  45. Lyon M, Morris T, Searle A, Butler J. Occurrences and linkage relations of the mutant "extra-toes" in the mouse. Genet Res. 1967;9:383-5 pubmed
  46. Chen Y, Perry D, Boackle S, Sobel E, Molina H, Croker B, et al. Several genes contribute to the production of autoreactive B and T cells in the murine lupus susceptibility locus Sle1c. J Immunol. 2005;175:1080-9 pubmed
  47. Meng R, Wang Y, Yao Y, Zhang Z, Harper D, Heijnen H, et al. SLC35D3 delivery from megakaryocyte early endosomes is required for platelet dense granule biogenesis and is differentially defective in Hermansky-Pudlak syndrome models. Blood. 2012;120:404-14 pubmed publisher
  48. Feng L, Rigatti B, Novak E, Gorin M, Swank R. Genomic structure of the mouse Ap3b1 gene in normal and pearl mice. Genomics. 2000;69:370-9 pubmed
    ..The pearl (Ap3b1) gene encodes the beta3A subunit of the AP-3 adaptor complex, which regulates vesicular trafficking...
  49. Faundez V, Kelly R. The AP-3 complex required for endosomal synaptic vesicle biogenesis is associated with a casein kinase Ialpha-like isoform. Mol Biol Cell. 2000;11:2591-604 pubmed
    ..In vitro, purified casein kinase I selectively phosphorylates the beta3A and beta3B subunit at its hinge domain. Inhibiting the kinase hinders the recruitment of AP-3 to synaptic vesicles...
  50. Chan W, Sherer N, Uchil P, Novak E, Swank R, Mothes W. Murine leukemia virus spreading in mice impaired in the biogenesis of secretory lysosomes and Ca2+-regulated exocytosis. PLoS ONE. 2008;3:e2713 pubmed publisher
    ..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...
  51. Young L, Gulleman P, Bridges J, Weaver T, Deutsch G, Blackwell T, et al. The alveolar epithelium determines susceptibility to lung fibrosis in Hermansky-Pudlak syndrome. Am J Respir Crit Care Med. 2012;186:1014-24 pubmed publisher
    ..of the pulmonary epithelium, we developed a transgenic model with epithelial-specific correction of the HPS2 defect in an HPS mouse model...
  52. Nguyen T, Novak E, Kermani M, Fluhr J, Peters L, Swank R, et al. Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development. J Invest Dermatol. 2002;119:1156-64 pubmed
    ..In contrast, the hypopigmentation seen in the gunmetal strain is due to the retention of melanosomes in melanocytes, and inefficient transfer into keratinocytes...
  53. Rikke B, Pinto L, Gorin M, Hardies S. Mus spretus-specific LINE-1 DNA probes applied to the cloning of the murine pearl locus. Genomics. 1993;15:291-6 pubmed
    ..spretus allele of the pearl gene has been transferred onto a M. domesticus background...
  54. Young L, Borchers M, Allen H, Gibbons R, McCormack F. Lung-restricted macrophage activation in the pearl mouse model of Hermansky-Pudlak syndrome. J Immunol. 2006;176:4361-8 pubmed
    ..We used the naturally occurring "pearl" HPS2 mouse model to investigate the mechanisms of lung inflammation observed in HPS...
  55. Subramanya A, Liu J, Ellison D, Wade J, Welling P. WNK4 diverts the thiazide-sensitive NaCl cotransporter to the lysosome and stimulates AP-3 interaction. J Biol Chem. 2009;284:18471-80 pubmed publisher
    ..Taken together, these findings indicate that WNK4 inhibits NCC activity by diverting the cotransporter to the lysosome for degradation by way of an AP-3 transport carrier. ..
  56. Lyerla T, Rusiniak M, Borchers M, Jahreis G, Tan J, Ohtake P, et al. Aberrant lung structure, composition, and function in a murine model of Hermansky-Pudlak syndrome. Am J Physiol Lung Cell Mol Physiol. 2003;285:L643-53 pubmed
    ..A mouse model of HPS, which is homozygously recessive for both the Hps1 (pale ear) and Hps2 (pearl) genes, exhibits striking abnormalities of lung type II cells...
  57. Zhen L, Jiang S, Feng L, Bright N, Peden A, Seymour A, et al. Abnormal expression and subcellular distribution of subunit proteins of the AP-3 adaptor complex lead to platelet storage pool deficiency in the pearl mouse. Blood. 1999;94:146-55 pubmed
    ..The gene for pearl has recently been identified as the beta3A subunit of the AP-3 adaptor complex...
  58. O Brien E, Novak E, Zhen L, Manly K, Stephenson D, Swank R. Molecular markers near two mouse chromosome 13 genes, muted and pearl, which cause platelet storage pool deficiency (SPD). Mamm Genome. 1995;6:19-24 pubmed
    The recessive muted (mu) and pearl (pe) mutations on Chromosome (Chr) 13 cause pigment dilution and platelet storage pool deficiency (SPD) in mice...
  59. McGarry M, Novak E, Swank R. Progenitor cell defect correctable by bone marrow transplantation in five independent mouse models of platelet storage pool deficiency. Exp Hematol. 1986;14:261-5 pubmed
    ..Reciprocal bone marrow transplantations were carried out between normal C57Bl/6J mice and five of these mutants, pearl, light ear, pale ear, ruby-eye, and maroon, to test whether the platelet defects are due to platelet progenitor ..
  60. Swank R, Sweet H, Davisson M, Reddington M, Novak E. Sandy: a new mouse model for platelet storage pool deficiency. Genet Res. 1991;58:51-62 pubmed
    ..It represents the tenth example of a mouse mutant with simultaneous defects in melanosomes, lysosomes and/or platelet dense granules. ..
  61. Timmerman V, Nelis E, Van Hul W, Nieuwenhuijsen B, Chen K, Wang S, et al. The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nat Genet. 1992;1:171-5 pubmed
    ..We now report that the human PMP-22 gene is contained within the CMT1A duplication. We therefore, suggest that increased dosage of the PMP-22 gene may be the cause of CMT1A neuropathy. ..
  62. Whitney J, Lamoreux M. Transposable elements controlling genetic instabilities in mammals. J Hered. 1982;73:12-8 pubmed
    ..Some phenotypic evidence in the mouse in support of this hypothesis is presented for the a, Mi, p, and W loci, which affect pigmentation. ..