Symbol Name ID |
Gabra2
gamma-aminobutyric acid type A receptor subunit alpha 2 MGI:95614 |
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 |
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Availability | Mouse Genotype | |||
Gabra2tm1.1Geh/Gabra2tm1.1Geh | ||||
Gabra2tm1.1Uru/Gabra2tm1.1Uru | ||||
Gabra2tm2.1Uru/Gabra2tm2.1Uru Tg(Scn10a-cre)1Rkun/0 (conditional) |
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 08/02/2024 MGI 6.24 |
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