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Symbol
Name
ID
Gabrb2
gamma-aminobutyric acid (GABA) A receptor, subunit beta 2
MGI:95620
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Postnatal microcephaly
Spasticity
Difficulty walking
EEG abnormality
Ataxia
Intellectual disability
Absent speech
Lethargy
Dyskinesia
Dystonia
Inability to walk
Myoclonus
Epileptic encephalopathy
Global developmental delay
Seizures
Disease(s) Associated with GABRB2
infantile or early childhood epileptic encephalopathy 2

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
Availability Mouse Genotype
Gabrb2tm1.1Twr/Gabrb2tm1.1Twr
Gabrb2tm1Twr/Gabrb2tm1Twr

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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Funding Information
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last database update
02/18/2020
MGI 6.14
The Jackson Laboratory