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Symbol Name ID |
Atp6ap2
ATPase, H+ transporting, lysosomal accessory protein 2 MGI:1917745 |
| Darker colors indicate more annotations |
| Human Phenotypes | Hypomimic face |
Rigidity |
Cogwheel rigidity |
Extrapyramidal muscular rigidity |
Spasticity |
Spastic paraparesis |
Scissor gait |
Frequent falls |
| Disease(s) Associated with ATP6AP2 | ||||||||
| syndromic X-linked intellectual disability Hedera type | ||||||||
| X-linked parkinsonism-spasticity syndrome |
| Mouse Phenotypes | decreased cardiac muscle contractility |
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| Availability | Mouse Genotype | |
| Atp6ap2tm1.1Aich/Y Tg(Myh6-cre)2182Mds/? (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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