Bloc1s2 Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Bloc1s2
biogenesis of lysosomal organelles complex-1, subunit 2
MGI:1920939

33 phenotypes from 2 alleles in 2 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Bloc1s2^{tm1.1(KOMP)Mbp}/Bloc1s2⁺ B6N(Cg)-Bloc1s2^{tm1.1(KOMP)Mbp}/J	decreased circulating free fatty acids level	J:211773
	increased circulating alanine transaminase level	J:211773
	thrombocytopenia	J:211773
Bloc1s2^{tm1.1(KOMP)Mbp}/Bloc1s2^{tm1.1(KOMP)Mbp} B6N(Cg)-Bloc1s2^{tm1.1(KOMP)Mbp}/J	abnormal craniofacial morphology	J:211773
	abnormal limb bud morphology	J:211773
	abnormal pericardium morphology	J:211773
	abnormal placenta size	J:211773
	edema	J:211773
	hemorrhage	J:211773
	pale liver	J:211773
	preweaning lethality, complete penetrance	J:211773
Bloc1s2^tm1Wli/Bloc1s2^tm1Wli involves: 129 * C57BL/6J	abnormal cerebral cortex morphology	J:238623
	abnormal cortical intermediate zone morphology	J:238623
	abnormal craniofacial morphology	J:238623
	abnormal hematopoietic stem cell morphology	J:238623
	abnormal lysosome morphology	J:238623
	abnormal lysosome physiology	J:238623
	abnormal stratification in cerebral cortex	J:238623
	abnormal vesicle-mediated transport	J:238623
	absent eye pigmentation	J:238623
	decreased brain size	J:238623
	decreased granulocyte monocyte progenitor cell number	J:238623
	enlarged lateral ventricles	J:238623
	impaired hematopoiesis	J:238623
	impaired neuron differentiation	J:238623
	increased hematopoietic stem cell number	J:238623
	increased hematopoietic stem cell proliferation	J:238623
	increased neuronal precursor proliferation	J:238623
	increased radial glial cell number	J:238623
	loss of cortex neurons	J:238623
	neonatal lethality, complete penetrance	J:238623
	prenatal lethality, incomplete penetrance	J:238623
	thin cerebral cortex	J:238623
	thin cortical plate	J:238623

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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