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Symbol
Name
ID
Atp6v1b2
ATPase, H+ transporting, lysosomal V1 subunit B2
MGI:109618
Phenotype annotations related to nervous system
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Intellectual disability
Disease(s) Associated with ATP6V1B2
autosomal dominant congenital deafness with onychodystrophy

Mouse Phenotypes
nervous system phenotype
increased susceptibility to pharmacologically induced seizures
environmentally induced seizures
abnormal hippocampus CA1 region morphology
Availability Mouse Genotype
Atp6v1b2em1Pcamp/Atp6v1b2em1Pcamp *
Atp6v1b2tm1Yoyu/Atp6v1b2tm1Yoyu
Atp6v1b2em1Pcamp/Atp6v1b2+

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
04/23/2024
MGI 6.23
The Jackson Laboratory