Hps4 Phenotype Annotations

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Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Hps4
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
MGI:2177742

15 phenotypes from 1 allele in 2 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Hps4^le/Hps4^le B6.C3-Pde6b^rd1 Hps4^le	abnormal choroid pigmentation	J:75144
	abnormal melanosome morphology	J:80751
	abnormal platelet dense granule morphology	J:7327
	abnormal platelet physiology	J:11990
	abnormal retina pigment epithelium morphology	J:75144
	decreased lysosomal enzyme secretion	J:5967, J:61552
	decreased platelet serotonin level	J:7327, J:29748
	decreased susceptibility to atherosclerosis	J:29748
	decreased urine protein level	J:5967, J:7416
	increased bleeding time	J:7327
	increased lysosomal enzyme secretion	J:7327
Hps4^le/Hps4^le involves: C3H/HeJ	abnormal ear pigmentation	J:5032
	abnormal eye pigmentation	J:5032
	abnormal melanosome morphology	J:5032
	abnormal skin pigmentation	J:5032
	diluted coat color	J:5032

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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