Symbol Name ID |
Gabra5
gamma-aminobutyric acid type A receptor subunit alpha 5 MGI:95617 |
Darker colors indicate more annotations |
Human Phenotypes | Secondary microcephaly |
Spasticity |
CNS hypomyelination |
Cerebral cortical atrophy |
Hypoplasia of the corpus callosum |
Frontotemporal cerebral atrophy |
Autism |
Intellectual disability, severe |
Global developmental delay |
Motor delay |
Seizure |
Bilateral tonic-clonic seizure with generalized onset |
Migrating focal seizure |
Myoclonic seizure |
Tonic seizure |
Status epilepticus |
Disease(s) Associated with GABRA5 | ||||||||||||||||
developmental and epileptic encephalopathy 79 |
Mouse Phenotypes | cochlear inner hair cell degeneration |
abnormal cochlear OHC efferent innervation pattern |
cochlear outer hair cell degeneration |
abnormal hippocampus CA1 region morphology |
cochlear ganglion degeneration |
abnormal GABA-mediated receptor currents |
abnormal inhibitory postsynaptic currents |
abnormal long-term potentiation |
decreased prepulse inhibition |
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Availability | Mouse Genotype | |||||||||
Gabra5tm1.1Uru/Gabra5tm1.1Uru | ||||||||||
Gabra5tm1Twr/Gabra5tm1Twr |
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 04/30/2024 MGI 6.23 |
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