Atp6v1h Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Atp6v1h
ATPase, H+ transporting, lysosomal V1 subunit H
MGI:1914864

20 phenotypes from 2 alleles in 2 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Atp6v1h^em1(IMPC)Bay/Atp6v1h⁺ C57BL/6N-Atp6v1h^em1(IMPC)Bay/Bay	abnormal retina vasculature morphology	J:211773
Atp6v1h^em1(IMPC)Bay/Atp6v1h^em1(IMPC)Bay C57BL/6N-Atp6v1h^em1(IMPC)Bay/Bay	embryonic lethality prior to organogenesis	J:211773
	preweaning lethality, complete penetrance	J:211773
Atp6v1h^em1Xhd/Atp6v1h⁺ involves: C57BL/6	abnormal cartilage development	J:239439
	abnormal osteoblast morphology	J:239439
	abnormal osteoclast differentiation	J:239439
	abnormal osteoclast physiology	J:239439
	decreased alkaline phosphatase activity	J:239439
	decreased bone mass	J:239439
	decreased bone mineralization	J:239439
	decreased bone ossification	J:239439
	decreased bone volume	J:239439
	decreased circulating phosphate level	J:239439
	decreased osteoblast cell number	J:239439
	decreased trabecular bone thickness	J:239439
	normal hematopoietic system phenotype	J:239439
	increased circulating alkaline phosphatase level	J:239439
	increased circulating calcium level	J:239439
	osteoporosis	J:239439
Atp6v1h^em1Xhd/Atp6v1h^em1Xhd involves: C57BL/6	embryonic lethality during organogenesis, complete penetrance	J:239439

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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