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Symbol
Name
ID
Gabra2
gamma-aminobutyric acid type A receptor subunit alpha 2
MGI:95614
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Microcephaly
Spasticity
CNS hypomyelination
Cerebral palsy
Chorea
EEG abnormality
Abnormal nonverbal communicative behavior
Reduced eye contact
Delayed speech and language development
Lack of spontaneous play
Impaired ability to form peer relationships
Autistic behavior
Autism
Addictive alcohol use
Inflexible adherence to routines
Motor stereotypy
Restrictive behavior
Intellectual disability
Inability to walk
Global developmental delay
Severe global developmental delay
Seizure
Status epilepticus
Disease(s) Associated with GABRA2
alcohol dependence
autistic disorder
developmental and epileptic encephalopathy 78

Mouse Phenotypes
abnormal CNS synaptic transmission
abnormal GABA-mediated receptor currents
abnormal miniature inhibitory postsynaptic currents
Availability Mouse Genotype
Gabra2tm1.1Geh/Gabra2tm1.1Geh
Gabra2tm1.1Uru/Gabra2tm1.1Uru
Gabra2tm2.1Uru/Gabra2tm2.1Uru
Tg(Scn10a-cre)1Rkun/0  (conditional)

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
05/14/2024
MGI 6.23
The Jackson Laboratory