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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Hps1
HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
MGI:2177763
31 phenotypes from 3 alleles in 4 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Hps1ep-7J/Hps1ep-7J
CAST/EiJ-Hps1ep-7J/GrsrJ 		decreased ear pigmentation J:198843
decreased tail pigmentation J:198843
diluted coat color J:198843
perinatal lethality, incomplete penetrance J:198843
postnatal lethality, incomplete penetrance J:198843
Hps1ep/Hps1ep-6J
involves: C3HeB/FeJ * C57BL/6J 		abnormal ear pigmentation J:27518
Hps1ep/Hps1ep
B6.C3Fe-Hps1ep/J 		abnormal iris pigmentation J:141035
abnormal lysosome physiology J:6801
abnormal melanosome morphology J:80751
abnormal NK cell physiology J:6801
abnormal type II pneumocyte morphology J:110157
alveolitis J:110157
decreased ear pigmentation J:99881
decreased platelet ADP level J:7327
decreased platelet ATP level J:7327
decreased platelet serotonin level J:7327, J:29748
decreased tail pigmentation J:99881
enlarged alveolar lamellar bodies J:110157
increased bleeding time J:7327
increased lysosomal enzyme secretion J:7327
increased susceptibility to atherosclerosis J:29748
overexpanded pulmonary alveolus J:110157
Hps1ep/Hps1ep
either: C3HeB/FeJ or (involves: C3HeB/FeJ * C57BL/6J) 		abnormal melanosome morphology J:5032
decreased ear pigmentation J:5032
decreased eye pigmentation J:5032
decreased tail pigmentation J:5032
diluted coat color J:5032
Hps1ep/Hps1ep
involves: C3HeB/FeJ * C57BL/6J 		abnormal choroid pigmentation J:42484
abnormal ciliary body pigmentation J:6064
abnormal circulating enzyme level J:6219
abnormal kidney physiology J:6219
abnormal macrophage physiology J:7869
abnormal melanosome morphology J:42484
abnormal platelet physiology J:7327, J:42484
abnormal retina morphology J:6064
abnormal urine homeostasis J:6219
decreased platelet ADP level J:7327
decreased platelet ATP level J:7327
decreased platelet dense granule number J:42484
decreased platelet serotonin level J:7327
enlarged alveolar lamellar bodies J:85431
enlarged kidney J:6219
increased bleeding time J:7327
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory