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Symbol Name ID |
Atp6v0a1
ATPase, H+ transporting, lysosomal V0 subunit A1 MGI:103286 |
| Darker colors indicate more annotations |
| Human Phenotypes | Hypsarrhythmia |
Delayed speech and language development |
Autistic behavior |
Hyperactivity |
Agitation |
Self-injurious behavior |
Intellectual disability |
Global developmental delay |
Delayed ability to roll over |
Delayed ability to walk |
Seizure |
Bilateral tonic-clonic seizure |
Focal impaired awareness seizure |
Clonic seizure |
Epileptic spasm |
Tonic seizure |
| Disease(s) Associated with ATP6V0A1 | ||||||||||||||||
| developmental and epileptic encephalopathy 104 |
| Mouse Phenotypes | increased neuron apoptosis |
decreased brain size |
abnormal hippocampus CA3 region morphology |
abnormal dentate gyrus morphology |
abnormal cerebral cortex pyramidal cell morphology |
decreased cerebral cortex pyramidal cell number |
abnormal cerebellar molecular layer |
decreased CNS synapse formation |
abnormal excitatory synapse morphology |
abnormal synaptic vesicle morphology |
abnormal miniature excitatory postsynaptic currents |
abnormal miniature inhibitory postsynaptic currents |
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| Availability | Mouse Genotype | ||||||||||||
| Atp6v0a1em2Hisa/Atp6v0a1em2Hisa | |||||||||||||
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 05/21/2024 MGI 6.23 |
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