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Symbol
Name
ID
Atp6v1a
ATPase, H+ transporting, lysosomal V1 subunit A
MGI:1201780
Phenotype annotations related to vision/eye
Darker colors indicate more annotations
Human Phenotypes
Cataract
Iris coloboma
Optic atrophy
Hypertelorism
Hypermetropia
Disease(s) Associated with ATP6V1A
autosomal recessive cutis laxa type IID
developmental and epileptic encephalopathy 93

Mouse Phenotypes
abnormal retina inner nuclear layer morphology
Availability Mouse Genotype
Atp6v1aem1(IMPC)Bay/Atp6v1a+

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
04/16/2024
MGI 6.23
The Jackson Laboratory