Hps3 Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Hps3
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
MGI:2153839

15 phenotypes from 7 alleles in 8 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Hps3^coa-2Btlr/Hps3^coa-2Btlr C57BL/6J-Hps3^coa-2Btlr	diluted coat color	J:201725
Hps3^coa-3Btlr/Hps3^coa-3Btlr C57BL/6J-Hps3^coa-3Btlr	diluted coat color	J:201727
Hps3^coa-6J/Hps3^coa-6J C3H/HeJ-Hps3^coa-6J/J	abnormal blood coagulation	J:63693
	diluted coat color	J:63693
	increased bleeding time	J:63693
Hps3^coa-7J/Hps3^coa-7J C3H/HeJ-Hps3^coa-7J/GrsrJ	abnormal eye pigmentation	J:118117
Hps3^coa-7J/Hps3^coa-7J C3H/HeJ-Hps3^coa-7J/GrsrJ	diluted coat color	J:118117
Hps3^coa-8J/Hps3^coa-8J C57BL/6J-Hps3^coa-8J/GrsrJ	diluted coat color	J:124644
Hps3^coa-Btlr/Hps3^coa-Btlr C57BL/6J-Hps3^coa-Btlr	diluted coat color	J:137495
Hps3^coa-Btlr/Hps3^coa-Btlr C57BL/6J-Hps3^coa-Btlr	normal immune system phenotype	J:137495
Hps3^coa/Hps3^coa B6;B10-Hps3^coa/J	abnormal iris pigmentation	J:141035
Hps3^coa/Hps3^coa involves: C57BL/10J	abnormal choroid pigmentation	J:72606
	abnormal melanosome morphology	J:80751
	abnormal platelet dense granule physiology	J:9300
	abnormal retina pigmentation	J:72606
	absent eye pigmentation	J:9300
	decreased platelet aggregation	J:9300
	decreased platelet ATP level	J:9300
	decreased platelet dense granule number	J:9300
	decreased platelet serotonin level	J:9300
	diluted coat color	J:9300
	increased bleeding time	J:9300

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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