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Symbol Name ID |
Gabrb2
gamma-aminobutyric acid type A receptor subunit beta 2 MGI:95620 |
| Darker colors indicate more annotations |
| Human Phenotypes | Secondary microcephaly |
Spasticity |
Difficulty walking |
Ataxia |
Myoclonus |
EEG abnormality |
Abnormal nonverbal communicative behavior |
Absent speech |
Delayed speech and language development |
Lethargy |
Lack of spontaneous play |
Impaired ability to form peer relationships |
Autism |
Inflexible adherence to routines |
Motor stereotypy |
Restrictive behavior |
Intellectual disability |
Dyskinesia |
Dystonia |
Inability to walk |
Epileptic encephalopathy |
Global developmental delay |
Seizure |
| Disease(s) Associated with GABRB2 | |||||||||||||||||||||||
| autistic disorder | |||||||||||||||||||||||
| developmental and epileptic encephalopathy 92 |
| Mouse Phenotypes | cochlear inner hair cell degeneration |
abnormal cochlear OHC efferent innervation pattern |
cochlear outer hair cell degeneration |
cochlear ganglion degeneration |
abnormal GABA-mediated receptor currents |
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| Availability | Mouse Genotype | |||||
| Gabrb2tm1.1Twr/Gabrb2tm1.1Twr | ||||||
| Gabrb2tm1Twr/Gabrb2tm1Twr | ||||||
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 |
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