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Symbol Name ID |
Atp6ap2
ATPase, H+ transporting, lysosomal accessory protein 2 MGI:1917745 |
| Darker colors indicate more annotations |
| Human Phenotypes | Drooling |
Ankle clonus |
Absent Achilles reflex |
Hyporeflexia of lower limbs |
Hyporeflexia of upper limbs |
Extrapyramidal muscular rigidity |
Spasticity |
Spastic paraparesis |
Scissor gait |
Frequent falls |
Delayed CNS myelination |
Lateral ventricle dilatation |
Dilated third ventricle |
Thin corpus callosum |
Hypoplasia of the corpus callosum |
Cerebral atrophy |
Diffuse cerebral atrophy |
Cerebellar atrophy |
Dysmetria |
Slurred speech |
Bradykinesia |
Parkinsonism |
Apraxia |
Action tremor |
Resting tremor |
Babinski sign |
Agraphesthesia |
Echolalia |
Delayed speech and language development |
Astereognosis |
Intellectual disability |
Hyperreflexia |
Hyperactive deep tendon reflexes |
Hyporeflexia |
Gait disturbance |
Falls |
Impaired tandem gait |
Inability to walk |
Unsteady gait |
Global developmental delay |
Motor delay |
Seizure |
Bilateral tonic-clonic seizure |
Atonic seizure |
| Disease(s) Associated with ATP6AP2 | ||||||||||||||||||||||||||||||||||||||||||||
| syndromic X-linked intellectual disability Hedera type | ||||||||||||||||||||||||||||||||||||||||||||
| X-linked parkinsonism-spasticity syndrome |
| Mouse Phenotypes | retina photoreceptor degeneration |
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| Availability | Mouse Genotype | |
| Atp6ap2tm1.1Aich/Y Tg(Crx-cre)1Tfur/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 04/23/2024 MGI 6.23 |
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