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Symbol Name ID |
Atp6v0a2
ATPase, H+ transporting, lysosomal V0 subunit A2 MGI:104855 |
| Darker colors indicate more annotations |
| Human Phenotypes | Deep plantar creases |
Multiple plantar creases |
Palmoplantar cutis laxa |
Deep palmar crease |
Multiple palmar creases |
Prominent veins on trunk |
Sparse hair |
Abnormality of hair texture |
Brittle hair |
Coarse hair |
Short nail |
Fragile nails |
Fragmented elastic fibers in the dermis |
Cutis laxa |
Redundant skin |
Excessive wrinkled skin |
Excessive skin wrinkling on dorsum of hands and fingers |
Neonatal wrinkled skin of hands and feet |
Progeroid facial appearance |
| Disease(s) Associated with ATP6V0A2 | |||||||||||||||||||
| autosomal recessive cutis laxa type IIA | |||||||||||||||||||
| wrinkly skin syndrome |
| Mouse Phenotypes | abnormal mammary gland development |
abnormal branching of the mammary ductal tree |
impaired mammary gland growth during pregnancy |
abnormal mammary gland epithelium morphology |
abnormal mammary gland duct morphology |
abnormal mammary duct terminal end bud morphology |
abnormal lactation |
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| Availability | Mouse Genotype | |||||||
| Atp6v0a2tm1Kdb/Atp6v0a2tm1Kdb Tg(MMTV-cre)4Mam/0 (conditional) |
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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 |
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