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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
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Allelic Composition
Genetic Background
Annotated Term Reference
Atp6v1hem1(IMPC)Bay/Atp6v1h+
C57BL/6N-Atp6v1hem1(IMPC)Bay/Bay
edema J:211773
Atp6v1hem1(IMPC)Bay/Atp6v1hem1(IMPC)Bay
C57BL/6N-Atp6v1hem1(IMPC)Bay/Bay
embryonic lethality prior to organogenesis J:211773
preweaning lethality, complete penetrance J:211773
Atp6v1hem1Xhd/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
Atp6v1hem1Xhd/Atp6v1hem1Xhd
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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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory