ENSMUSG00000021686


Mus musculus

Features
Gene ID: ENSMUSG00000021686
  
Biological name :Ap3b1
  
Synonyms : Ap3b1 / AP-3 complex subunit beta-1 / Q9Z1T1
  
Possible biological names infered from orthology : adaptor related protein complex 3 beta 1 subunit / O00203
  
Species: Mus musculus
  
Chr. number: 13
Strand: 1
Band: C3
Gene start: 94358960
Gene end: 94566317
  
Corresponding Affymetrix probe sets: 10406681 (MoGene1.0st)   1423235_at (Mouse Genome 430 2.0 Array)   1450915_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000022196
NCBI entrez gene - 11774     See in Manteia.
MGI - MGI:1333879
RefSeq - NM_009680
RefSeq - XM_006517523
RefSeq Peptide - NP_033810
swissprot - Q9Z1T1
Ensembl - ENSMUSG00000021686
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 AP3B1ENSDARG00000100082Danio rerio
 CU929160.1ENSDARG00000110056Danio rerio
 AP3B1ENSGALG00000004390Gallus gallus
 AP3B1ENSG00000132842Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Ap3b2 / Q9JME5 / AP-3 complex subunit beta-2 / Q13367* / adaptor related protein complex 3 beta 2 subunit*ENSMUSG0000006244461


Protein motifs (from Interpro)
Interpro ID Name
 IPR002553  Clathrin/coatomer adaptor, adaptin-like, N-terminal
 IPR011989  Armadillo-like helical
 IPR015151  Beta-adaptin appendage, C-terminal subdomain
 IPR016024  Armadillo-type fold
 IPR026739  AP complex subunit beta
 IPR026740  AP-3 complex subunit beta
 IPR029390  AP-3 complex subunit beta, C-terminal domain
 IPR029394  AP-3 complex subunit beta 1, serine-rich domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006622 protein targeting to lysosome IMP
 biological_processGO:0006829 zinc ion transport TAS
 biological_processGO:0006886 intracellular protein transport TAS
 biological_processGO:0007596 blood coagulation IMP
 biological_processGO:0008089 anterograde axonal transport IMP
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0016192 vesicle-mediated transport TAS
 biological_processGO:0019882 antigen processing and presentation IMP
 biological_processGO:0032438 melanosome organization IEA
 biological_processGO:0048007 antigen processing and presentation, exogenous lipid antigen via MHC class Ib IMP
 biological_processGO:0048490 anterograde synaptic vesicle transport IMP
 biological_processGO:0051138 positive regulation of NK T cell differentiation IMP
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005802 trans-Golgi network TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030117 membrane coat IEA
 cellular_componentGO:0030123 AP-3 adaptor complex IEA
 cellular_componentGO:0030131 clathrin adaptor complex IEA
 cellular_componentGO:0030665 clathrin-coated vesicle membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:1904115 axon cytoplasm IEA
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0019903 protein phosphatase binding IEA
 molecular_functionGO:0030742 GTP-dependent protein binding IEA


Pathways (from Reactome)
Pathway description
Golgi Associated Vesicle Biogenesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000371 diluted coat color "a coat color that appears lighter in intensity or paler than normal" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Agtr2tm1Tin/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ap3b1tm1Sms/Ap3b1tm1Sms
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Ap3b1tm1Sms/Ap3b1tm1Sms
Genetic Background: B6.129-Ap3b1tm1Sms

Allelic Composition: Ap3b1pe-13J/Ap3b1pe-13J
Genetic Background: STOCK Tg(CAG-EGFP)B5Nagy/J

Allelic Composition: Ap3b1pe-7J/Ap3b1pe-7J
Genetic Background: involves: DBA/1LacJ

Allelic Composition: Ap3b1pe-11J/Ap3b1pe-11J
Genetic Background: B10.RIII H2r H2-T18b/(71NS)Sn-Ap3b1pe-11J/J

Allelic Composition: Ap3b1pe-14J/Ap3b1pe-14J
Genetic Background: B6;129S2 Seletm1Hyn-Ap3b1pe-14J/GrsrJ

Allelic Composition: Ap3b1pe-15J/Ap3b1pe-15J
Genetic Background: C3(SW)-H2b Ap3b1pe-15J/GrsrJ

Allelic Composition: Ap3b1pe-16J/Ap3b1pe-16J
Genetic Background: C57BL/6J-Sobpjc Ap3b1pe-16J/GrsrJ

Allelic Composition: Ap3b1tm1.1Sms/Ap3b1tm1.1Sms
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Ap3b1m1Btlr/Ap3b1m1Btlr
Genetic Background: C57BL/6J-Ap3b1m1Btlr

Allelic Composition: Ap3b1pe-10J/Ap3b1pe-10J
Genetic Background: C57BL/6J-Ap3b1pe-10J

Allelic Composition: Ap3b1pe-8J/Ap3b1pe-8J
Genetic Background: DBA/2J

Allelic Composition: Ap3b1pe/Ap3b1pe-6J
Genetic Background: (B6.C3-Ap3b1pe x C3H/HeJ-Ap3b1pe-6J)F1

 MP:0000783 abnormal forebrain morphology "malformed or absent anterior primitive cerebral vesicle; most rostral of three primary vesicles of the embryonic neural tube" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:38857]
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Allelic Composition: Mesp2tm1Ysa/Mesp2tm7.1(mespb)Ysa
Genetic Background: involves: C57BL/6 * CBA

 MP:0000805 abnormal visual cortex morphology "malformation or absence of the area of the occipital cortex concerned with vision" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Mesp2tm1Ysa/Mesp2tm7.1(mespb)Ysa
Genetic Background: involves: C57BL/6 * CBA

 MP:0000904 abnormal superior colliculus "dysmorphology or disorganization of the paired superior eminence of the mesencephalic tectum that is involved in auditory processing" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Mesp2tm1Ysa/Mesp2tm7.1(mespb)Ysa
Genetic Background: involves: C57BL/6 * CBA

 MP:0001182 lung hemorrhage "bleeding in the respiratory organs" [J:66345]
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Allelic Composition: Mesp2tm1Ysa/Mesp2tm7.1(mespb)Ysa
Genetic Background: involves: C57BL/6 * CBA

 MP:0001183 overexpanded alveoli "expanded volume of the saclike terminal dilation of the respiratory bronchioles" [J:66345]
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Allelic Composition: Mesp2tm1Ysa/Mesp2tm7.1(mespb)Ysa
Genetic Background: involves: C57BL/6 * CBA

 MP:0001293 anophthalmia "congenital absence of all tissues of the eyes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CML, J:71979]
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Allelic Composition: Actc1tm1Jll/Actc1tm1Jll,Tg(Myh6-Actg2)1Jll/0
Genetic Background: involves: 129P2/OlaHsd * Black Swiss * FVB/N

 MP:0001304 cataracts "complete or partial opacity of the lens" [J:65031]
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Allelic Composition: Actc1tm1Jll/Actc1tm1Jll,Tg(Myh6-Actg2)1Jll/0
Genetic Background: involves: 129P2/OlaHsd * Black Swiss * FVB/N

 MP:0001324 abnormal eye pigmentation "change in the normal black pigmentation of the eye to another color, or lack of color" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ap3b1tm1Sms/Ap3b1tm1Sms
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Ap3b1pe-15J/Ap3b1pe-15J
Genetic Background: C3(SW)-H2b Ap3b1pe-15J/GrsrJ

Allelic Composition: Ap3b1pe-8J/Ap3b1pe-8J
Genetic Background: DBA/2J

 MP:0001386 abnormal maternal nurturing "failure of mothers to tend offspring" [J:39801]
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Allelic Composition: Agtr2tm1Tin/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001389 abnormal eye movements "deviation from the normal motility of the visual organs" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Mesp2tm1Ysa/Mesp2tm7.1(mespb)Ysa
Genetic Background: involves: C57BL/6 * CBA

 MP:0001861 lung inflammation "local accumulation of fluid, plasma proteins, and leukocytes in the lung" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
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Allelic Composition: Hps1ep/Hps1ep
Genetic Background: involves: C3HeB/FeJ * C57BL/6J

 MP:0001926 female infertility "inability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:34193]
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Allelic Composition: Agtr2tm1Tin/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001958 emphysema "lung disease characterized by increased size of terminal bronchioles with destructive changes in their walls and reduction in number" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:33629]
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Allelic Composition: Hps1ep/Hps1ep
Genetic Background: involves: C3HeB/FeJ * C57BL/6J

 MP:0002075 abnormal coat color "irregular or unusual pigmentation pattern of the hair in relation to control animals" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Agtr2tm1Tin/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ap3b1pe-5J/?
Genetic Background: CBA/J-Ap3b1pe-5J

Allelic Composition: Ap3b1pe-10J/Ap3b1pe-10J
Genetic Background: C57BL/6J-Ap3b1pe-10J

Allelic Composition: Ap3b1pe-8J/Ap3b1pe-8J
Genetic Background: DBA/2J

 MP:0002082 postnatal lethality "premature death anytime after postnatal day 1 to weaning age (3 weeks)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Agtr2tm1Tin/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Mesp2tm1Ysa/Mesp2tm7.1(mespb)Ysa
Genetic Background: involves: C57BL/6 * CBA

 MP:0002090 abnormal vision "inability or decreased ability to see " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Mesp2tm1Ysa/Mesp2tm7.1(mespb)Ysa
Genetic Background: involves: C57BL/6 * CBA

 MP:0002095 abnormal skin pigmentation "variation of skin color or complexion" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ap3b1pe-11J/Ap3b1pe-11J
Genetic Background: B10.RIII H2r H2-T18b/(71NS)Sn-Ap3b1pe-11J/J

Allelic Composition: Ap3b1pe-15J/Ap3b1pe-15J
Genetic Background: C3(SW)-H2b Ap3b1pe-15J/GrsrJ

 MP:0002270 abnormal alveoli morphology "any structural anomaly of the outpouching of the respiratory system where gas exchange occurs" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Mesp2tm1Ysa/Mesp2tm7.1(mespb)Ysa
Genetic Background: involves: C57BL/6 * CBA

 MP:0002275 abnormal type II pneumocyte morphology "any structural anomaly of the epithelial cells lining the alveoli that produce surfactant " [Pathology , 2nd edition:ISBN 0-397-51047-0, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Hps1ep/Hps1ep
Genetic Background: involves: C3HeB/FeJ * C57BL/6J

 MP:0002276 abnormal lung interstitium morphology "any structural anomaly of the lung tissue, but not including the conducting airways (bronchi, bronchioles, alveoli) " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Pathology , 2nd edition:ISBN 0-397-51047-0]
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Allelic Composition: Hps1ep/Hps1ep
Genetic Background: involves: C3HeB/FeJ * C57BL/6J

 MP:0002418 increased susceptibility to viral infection "greater likelihood that an organism will develop ill effects from a viral infection or from components of or toxins produced by a virus" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ap3b1m1Btlr/Ap3b1m1Btlr
Genetic Background: C57BL/6J-Ap3b1m1Btlr

 MP:0002551 abnormal blood coagulation "altered ability or inability of the blood to clot" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Agtr2tm1Tin/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002620 abnormal monocyte morphology "anomalous structure, number, or development of the white blood cells that are precursors to macrophages" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Hps1ep/Hps1ep
Genetic Background: involves: C3HeB/FeJ * C57BL/6J

 MP:0002938 white spotting "the appearance of patches of white fur" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Agtr2tm1Tin/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0003173 decreased lysosomal enzyme secretion "production of glycoprotein hydrolytic enzymes is decreased compared to normal" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Ap3b1pe/Ap3b1pe
Genetic Background: B6.C3-Ap3b1pe/J

 MP:0003633 abnormal nervous system physiology 
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Allelic Composition: Ap3b1tm1Sms/Ap3b1tm1Sms
Genetic Background: B6.129-Ap3b1tm1Sms

 MP:0004165 abnormal lateral geniculate nucleus morphology "any malformation or absence of the group of neurons that serve as the primary processor of visual information received from the retina via the optic tract and send processed information to the visual cortex of the occipital lobe" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Ap3b1pe/Ap3b1pe
Genetic Background: B6.C3-Ap3b1pe/J

 MP:0004267 abnormal optic tract morphology "any structural anomaly of the band of optic nerve fibers running from the optic chiasma to the lateral geniculate body and midbrain" [MESH:National Library of Medicine_Medical Subject Headings]
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Allelic Composition: Ap3b1pe/Ap3b1pe
Genetic Background: B6.C3-Ap3b1pe/J

 MP:0004721 abnormal platelet dense granule morphology "any structural anomaly of the electron-dense bodies occurring in blood platelets that store and secrete adenosine nucleotides and serotonin" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Ap3b1pe/Ap3b1pe
Genetic Background: B6.C3-Ap3b1pe/J

 MP:0004725 decreased platelet serotonin level "reduced concentration of serotonin in the platelets; this biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Agtr2tm1Tin/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ap3b1pe/Ap3b1pe
Genetic Background: B6.C3-Ap3b1pe/J

 MP:0004756 abnormal proximal convoluted tubule morphology "any structural anomaly of the convoluted portion of the duct system of the nephron that extends from the renal glomeurlar capsule in the kidney cortex into the kidney medulla where it joins the loop of Henle; fluid entering the proximal convoluted tubule is reabsorbed into the peritubular capillaries, including approximately two-thirds of the filtered salt and water and all filtered organic solutes" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Mesp2tm1Ysa/Mesp2tm7(mespb)Ysa
Genetic Background: involves: C57BL/6 * CBA

 MP:0005058 abnormal lysosome morphology "anomalous structure of any of the cytoplasmic, membrane bound vesicles that contain a variety of hydrolases" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ap3b1tm1Sms/Ap3b1tm1Sms
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Ap3b1pe/Ap3b1pe
Genetic Background: B6.C3-Ap3b1pe/J

 MP:0005060 accumulation of giant lysosomes in kidney/renal tubule cells "buildup of contents in lysosomes in cells of the kidney tubules " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:5590]
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Allelic Composition: Ap3b1pe/Ap3b1pe
Genetic Background: B6.C3-Ap3b1pe/J

 MP:0005075 abnormal melanosome morphology "anomalous structure of these tissue-specific cytoplasmic organelles within which melanin pigments are synthesized and stored" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:5346]
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Allelic Composition: Agtr2tm1Tin/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ap3b1tm1Sms/Ap3b1tm1Sms
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0005172 lack of eye pigmentation "visual organs are devoid of coloring pigment in relation to control animals, usually resulting in a red or pink color" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:83500]
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Allelic Composition: Agtr2tm1Tin/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ap3b1pe-rim2/Ap3b1pe-rim2
Genetic Background: involves: B10.A(R201) * C57BL/10Slc

Allelic Composition: Ap3b1pe-10J/Ap3b1pe-10J
Genetic Background: C57BL/6J-Ap3b1pe-10J

 MP:0005319 abnormal enzyme/ coenzyme level "altered concentration of any of these proteins, or their cofactors, that act as catalysts to induce chemical changes in other substances" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Mesp2tm1Ysa/Mesp2tm7(mespb)Ysa
Genetic Background: involves: C57BL/6 * CBA

 MP:0005408 hypopigmentation "dilution of the pigment in the body" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Ap3b1tm1Sms/Ap3b1tm1Sms
Genetic Background: B6.129-Ap3b1tm1Sms

Allelic Composition: Ap3b1pe-rim2/Ap3b1pe-rim2
Genetic Background: involves: B10.A(R201) * C57BL/10Slc

Allelic Composition: Ap3b1pe/Ap3b1pe-6J
Genetic Background: (B6.C3-Ap3b1pe x C3H/HeJ-Ap3b1pe-6J)F1

Allelic Composition: Ap3b1pe/Ap3b1pe-9J
Genetic Background: (B6.C3-Ap3b1pe x C57BL/6J-Ap3b1pe-9J)F1

 MP:0005584 abnormal enzyme/coenzyme activity "altered ability of any of these proteins, or their cofactors, to act as catalysts to induce chemical changes in other substances" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ap3b1pe/Ap3b1pe
Genetic Background: B6.C3-Ap3b1pe/J

 MP:0005606 increased bleeding time "greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]
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Allelic Composition: Agtr2tm1Tin/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ap3b1tm1Sms/Ap3b1tm1Sms
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Ap3b1pe/Ap3b1pe
Genetic Background: B6.C3-Ap3b1pe/J

 MP:0005630 increased lung weight "greater than the normal state of the physical heaviness of the lung" [RGD:Rat Genome Database submission]
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Allelic Composition: Hps1ep/Hps1ep
Genetic Background: involves: C3HeB/FeJ * C57BL/6J

 MP:0005636 abnormal mineral homeostasis "anomaly in the state of equilibrium in the body with respect to any of the inorganic substance that have importance in body functions" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ap3b1tm1Sms/Ap3b1tm1Sms
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0006103 abnormal midbrain roof plate morphology "any structural alterations or malfunction of the mesencephalic roof plate, including the caudal and rostral part of the midbrain roof" [smb:Susan M Bello, Mouse Genome Informatics Curator, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Ap3b1pe/Ap3b1pe
Genetic Background: B6.C3-Ap3b1pe/J

 MP:0006298 abnormal platelet activation "anomaly in the series of progressive, overlapping events triggered by exposure of platelets to signals from subendothelial tissue, including shape change, adhesiveness, aggregation, and release reactions; when carried through to completion, these events lead to the formation of a stable hemostatic plug" [GO:0030168, MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ap3b1pe/Ap3b1pe
Genetic Background: B6.C3-Ap3b1pe/J

 MP:0006382 abnormal lung epithelium morphology "any structural anomaly of the epithelial layer of the lung" [MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Hps1ep/Hps1ep
Genetic Background: involves: C3HeB/FeJ * C57BL/6J

 MP:0008028 pregnancy-related premature death "death occuring before the normal life span of an organism, occuring during pregnancy, parturition or lactation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:hdene "Howard Dene, Mouse Genome Informatics Curator"]
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Allelic Composition: Agtr2tm1Tin/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0009379 abnormal foot pigmentation "anomaly in the coloration of the foot" [MGI:mberry "Melissa Berry, Genetics Resources Curator"]
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Allelic Composition: Ap3b1pe-16J/Ap3b1pe-16J
Genetic Background: C57BL/6J-Sobpjc Ap3b1pe-16J/GrsrJ

Allelic Composition: Ap3b1m1Btlr/Ap3b1m1Btlr
Genetic Background: C57BL/6J-Ap3b1m1Btlr

 MP:0009446 abnormal platelet dense granule physiology "any functional anomaly of the specialized secretory organelles located in the small, irregularly shaped anuclear cells derived from fragmentation of precursor megakaryocytes that contain adenine nucleotides (ADP and ATP), ionized calcium, histamine, serotonin, and epinephrine" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Agtr2tm1Tin/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ap3b1pe-rim2/Ap3b1pe-rim2
Genetic Background: involves: B10.A(R201) * C57BL/10Slc

 MP:0009448 decreased platelet ATP level "reduced concentration of the major energy source adenosine triphosphate produced by dense bodies located in platelets" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Ap3b1pe-rim2/Ap3b1pe-rim2
Genetic Background: involves: B10.A(R201) * C57BL/10Slc

Allelic Composition: Ap3b1pe/Ap3b1pe
Genetic Background: B6.C3-Ap3b1pe/J

 MP:0009549 impaired platelet aggregation "decrease in the ability of one platelet to one or more other platelets via adhesion molecules" [GO:0070527]
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Allelic Composition: Ap3b1pe-rim2/Ap3b1pe-rim2
Genetic Background: involves: B10.A(R201) * C57BL/10Slc

Allelic Composition: Ap3b1pe/Ap3b1pe
Genetic Background: B6.C3-Ap3b1pe/J

 MP:0009557 decreased platelet ADP level "reduced concentration of the major energy source adenosine diphosphate produced by dense bodies located in platelets" [MGI:mberry "Melissa Berry, Genetics Resources Curator"]
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Allelic Composition: Ap3b1pe-rim2/Ap3b1pe-rim2
Genetic Background: involves: B10.A(R201) * C57BL/10Slc

Allelic Composition: Ap3b1pe/Ap3b1pe
Genetic Background: B6.C3-Ap3b1pe/J

 MP:0010815 enlarged alveolar lamellar bodies "increased size of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Ap3b1pe/Ap3b1pe,Hps1ep/Hps1ep
Genetic Background: involves: C3H/He * C3HeB/FeJ * C57BL/6J

 MP:0010950 abnormal lung hysteresivity "anomaly in the lung tissue property defined as the ratio of dissipated energy to stored energy over a respiratory cycle; it can be measured as the area enclosed by a pressure-volume loop of the lung, and is dependent on composition and microstructure of the tissue components such as the elastic connective tissue" [PMID:2606848]
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Allelic Composition: Ap3b1pe/Ap3b1pe,Hps1ep/Hps1ep
Genetic Background: involves: C3H/He * C3HeB/FeJ * C57BL/6J

 MP:0011088 partial neonatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the neonatal period after birth (Mus: P0)" [MGI:csmith]
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Allelic Composition: Agtr2tm1Tin/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0011277 decreased tail pigmentation "visually detectable dilution of pigment present on the tail surface" [MGI:csmith]
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Allelic Composition: Ap3b1pe-15J/Ap3b1pe-15J
Genetic Background: C3(SW)-H2b Ap3b1pe-15J/GrsrJ

Allelic Composition: Ap3b1pe-16J/Ap3b1pe-16J
Genetic Background: C57BL/6J-Sobpjc Ap3b1pe-16J/GrsrJ

Allelic Composition: Ap3b1m1Btlr/Ap3b1m1Btlr
Genetic Background: C57BL/6J-Ap3b1m1Btlr

 MP:0011279 decreased ear pigmentation "visually detectable dilution of pigment present in the outer ear" [MGI:csmith]
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Allelic Composition: Ap3b1pe-15J/Ap3b1pe-15J
Genetic Background: C3(SW)-H2b Ap3b1pe-15J/GrsrJ

Allelic Composition: Ap3b1pe-16J/Ap3b1pe-16J
Genetic Background: C57BL/6J-Sobpjc Ap3b1pe-16J/GrsrJ

Allelic Composition: Ap3b1m1Btlr/Ap3b1m1Btlr
Genetic Background: C57BL/6J-Ap3b1m1Btlr

 MP:0020432 decreased platelet dense granule number "decreased number of the electron-dense bodies occurring in blood platelets that store and secrete adenosine nucleotides and serotonin" [orcid.org/0000-0003-4606-0597]
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Allelic Composition: Agtr2tm1Tin/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ap3b1pe/Ap3b1pe
Genetic Background: B6.C3-Ap3b1pe/J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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