Hps1 Phenotype Annotations

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

Allelic Composition Genetic Background	Annotated Term	Reference
Hps1^ep-7J/Hps1^ep-7J CAST/EiJ-Hps1^ep-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
Hps1^ep/Hps1^ep-6J involves: C3HeB/FeJ * C57BL/6J	abnormal ear pigmentation	J:27518
Hps1^ep/Hps1^ep B6.C3Fe-Hps1^ep/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
Hps1^ep/Hps1^ep 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
Hps1^ep/Hps1^ep 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 05/07/2024 MGI 6.23