Symbol
Name
ID

Gabrb3
GABRB3, gamma-aminobutyric acid type A receptor subunit beta 3
MGI:95621

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes

Ataxia

Hypsarrhythmia

Hyperactivity

Attention deficit hyperactivity disorder

Impulsivity

Intellectual disability

Sleep abnormality

Dyskinesia

Epileptic encephalopathy

Global developmental delay

Bilateral tonic-clonic seizure

Atypical absence seizure

Atonic seizure

Infantile spasms

Myoclonic seizure

Disease(s) Associated with GABRB3

developmental and epileptic encephalopathy 43

Mouse Phenotypes

increased susceptibility to pharmacologically induced seizures

seizures

absence seizures

abnormal cochlear IHC afferent innervation pattern

cochlear inner hair cell degeneration

abnormal cochlear OHC efferent innervation pattern

cochlear outer hair cell degeneration

abnormal hippocampus neuron morphology

abnormal cerebellum vermis lobule II morphology

abnormal cerebellum vermis lobule III morphology

abnormal cerebellum vermis lobule IV morphology

abnormal cerebellum vermis lobule V morphology

abnormal cerebellum vermis lobule morphology

abnormal cerebellum vermis lobule VI morphology

abnormal cerebellum vermis lobule VII morphology

abnormal dentate gyrus neuron dendrite morphology

cochlear ganglion degeneration

small cochlear ganglion

cochlear ganglion hypoplasia

small vestibular ganglion

vestibular ganglion hypoplasia

abnormal cochlear nerve morphology

abnormal action potential

abnormal CNS synaptic transmission

abnormal GABA-mediated receptor currents

increased excitatory postsynaptic current amplitude

prolonged excitatory postsynaptic current decay time

abnormal inhibitory postsynaptic potential

Availability

Mouse Genotype

Gabrb3^tm1Geh/Gabrb3^tm1Geh

Gabrb3^tm1Uru/Gabrb3^tm1Uru

Gabrb3^tm2.1Uru/Gabrb3^tm2.1Uru

Gabrb3^tm2.1Geh/Gabrb3^tm2.1Geh
Tg(Camk2a-cre)T29-1Stl/? (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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