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Symbol
Name
ID
Gabra5
gamma-aminobutyric acid type A receptor subunit alpha 5
MGI:95617
Phenotype annotations related to nervous system
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
Availability Mouse Genotype
Gabra5tm1.1Uru/Gabra5tm1.1Uru
Gabra5tm1Twr/Gabra5tm1Twr

Contributing Projects:
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
The Jackson Laboratory