Bloc1s1 Phenotype Annotations

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Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Bloc1s1
biogenesis of lysosomal organelles complex-1, subunit 1
MGI:1195276

10 phenotypes from 2 alleles in 3 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Bloc1s1^tm1.1Wli/Bloc1s1^tm1.1Wli involves: 129 * C57BL/6J	abnormal autophagy	J:238911
	abnormal lysosome morphology	J:238911
	abnormal vesicle-mediated transport	J:238911
	absent eye pigmentation	J:238911
	normal cellular phenotype	J:238623
	prenatal lethality, complete penetrance	J:238911
Bloc1s1^{tm1a(EUCOMM)Hmgu}/Bloc1s1⁺ C57BL/6N-Bloc1s1^{tm1a(EUCOMM)Hmgu}/Ics	increased circulating cholesterol level	J:165965
Bloc1s1^{tm1a(EUCOMM)Hmgu}/Bloc1s1^{tm1a(EUCOMM)Hmgu} C57BL/6N-A^tm1Brd Bloc1s1^{tm1a(EUCOMM)Hmgu}/Ics	abnormal autophagy	J:213033
	abnormal mitochondrial physiology	J:213033
	abnormal mitophagy	J:213033
	embryonic lethality, complete penetrance	J:213033

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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