Hps5 Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Hps5
HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
MGI:2180307

26 phenotypes from 11 alleles in 12 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Hps5^em1(IMPC)J/Hps5^em1(IMPC)J C57BL/6NJ-Hps5^em1(IMPC)J/Mmjax	abnormal iris pigmentation	J:211773
	abnormal iris transillumination	J:211773
	hyperactivity	J:211773
	increased vertical activity	J:211773
Hps5^ru2-2Btlr/Hps5^ru2-2Btlr C57BL/6J-Hps5^ru2-2Btlr	diluted coat color	J:135220
Hps5^ru2-2Btlr/Hps5^ru2-2Btlr C57BL/6J-Hps5^ru2-2Btlr	normal immune system phenotype	J:135220
Hps5^ru2-3Btlr/Hps5^ru2-3Btlr C57BL/6J-Hps5^ru2-3Btlr	decreased ear pigmentation	J:216049
	decreased foot pigmentation	J:216049
	decreased tail pigmentation	J:216049
	diluted coat color	J:216049
Hps5^ru2-4Btlr/Hps5^ru2-4Btlr C57BL/6J-Hps5^ru2-4Btlr	diluted coat color	J:255198
Hps5^ru2-4Btlr/Hps5^ru2-4Btlr C57BL/6J-Hps5^ru2-4Btlr	hypopigmentation	J:255198
Hps5^ru2-8J/Hps5^ru2-8J involves: C3H/HeJ	abnormal coat/hair pigmentation	J:29156
	abnormal eye pigmentation	J:29156
	decreased eye pigmentation	J:29156
	diluted coat color	J:29156
Hps5^ru2-Btlr/Hps5^ru2-Btlr C57BL/6J-Hps5^ru2-Btlr	abnormal foot pigmentation	J:133272
	decreased ear pigmentation	J:133272
	decreased eye pigmentation	J:133272
	decreased tail pigmentation	J:133272
	diluted coat color	J:133272
	increased susceptibility to bacterial infection	J:133272
	increased susceptibility to Herpesvirales infection	J:133272
Hps5^ru2-hz/Hps5^ru2-hz involves: DBA/2J	decreased eye pigmentation	J:15055
Hps5^ru2-hz/Hps5^ru2-hz involves: DBA/2J	diluted coat color	J:15055
Hps5^ru2-J/Hps5^ru2-J C57BL/6J-Hps5^ru2-J/J	abnormal urine homeostasis	J:6422
Hps5^ru2-mr/Hps5^ru2-mr B6.Cg-Hps5^ru2-mr/Re	decreased platelet ADP level	J:7327
	decreased platelet ATP level	J:7327
	decreased platelet dense granule number	J:7327
	decreased platelet serotonin level	J:7327, J:29748
	decreased susceptibility to atherosclerosis	J:29748
	increased bleeding time	J:7327
Hps5^ru2-mr/Hps5^ru2-mr Not Specified	abnormal kidney physiology	J:6422
	decreased eye pigmentation	J:15003
	diluted coat color	J:15003
Hps5^ru2-r/Hps5^ru2-r involves: C57BL/10	decreased eye pigmentation	J:64446
Hps5^ru2-r/Hps5^ru2-r involves: C57BL/10	diluted coat color	J:64446
Hps5^ru2/Hps5^ru2 involves: C57BL	abnormal choroid pigmentation	J:81444
	abnormal eye pigmentation	J:81444
	abnormal retina pigment epithelium morphology	J:81444
	diluted coat color	J:20282

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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