Bloc1s4 Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Bloc1s4
biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino
MGI:1929230

31 phenotypes from 2 alleles in 3 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Bloc1s4^cno/Bloc1s4^cno C3H/HeJ-Bloc1s4^cno	abnormal choroid pigmentation	J:61187
	abnormal kidney physiology	J:61187
	abnormal liver physiology	J:61187
	abnormal melanogenesis	J:61187
	abnormal melanosome morphology	J:61187
	abnormal optic choroid morphology	J:61187
	abnormal platelet dense granule physiology	J:61187
	abnormal postural reflex	J:61187
	abnormal retina pigmentation	J:61187
	abnormal vesicle-mediated transport	J:83960
	decreased eye pigmentation	J:61187
	decreased lysosomal enzyme secretion	J:61187
	decreased platelet aggregation	J:61187
	decreased platelet ATP level	J:61187
	decreased platelet calcium level	J:61187
	decreased platelet dense granule number	J:61187
	decreased platelet serotonin level	J:61187
	diluted coat color	J:61187
	head tilt	J:61187
	hypopigmentation	J:61187
	impaired balance	J:61187
	increased bleeding time	J:61187
	normal respiratory system phenotype	J:61187
Bloc1s4^cno/Bloc1s4^cno involves: C3H/HeJ	abnormal melanosome maturation	J:80751
	abnormal melanosome morphology	J:80751
	abnormal melanosome size	J:80751
	small melanosome	J:80751
Bloc1s4^em1(IMPC)Mbp/Bloc1s4^em1(IMPC)Mbp C57BL/6NCrl-Bloc1s4^em1(IMPC)Mbp/MbpMmucd	abnormal coat/hair pigmentation	J:211773
	abnormal eye morphology	J:211773
	abnormal skin morphology	J:211773
	decreased circulating total protein level	J:211773
	increased monocyte cell number	J:211773

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 07/02/2024 MGI 6.13