Symbol
Name
ID

Gabrb1
gamma-aminobutyric acid type A receptor subunit beta 1
MGI:95619

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes

Hypoplasia of the corpus callosum

Ataxia

EEG abnormality

Hypsarrhythmia

Abnormal nonverbal communicative behavior

Delayed speech and language development

Lack of spontaneous play

Impaired ability to form peer relationships

Autism

Inflexible adherence to routines

Motor stereotypy

Restrictive behavior

Intellectual disability

Epileptic encephalopathy

Developmental regression

Global developmental delay

Seizure

Disease(s) Associated with GABRB1

autistic disorder

developmental and epileptic encephalopathy 45

Mouse Phenotypes		abnormal single cell response	abnormal miniature inhibitory postsynaptic currents	increased miniature inhibitory postsynaptic current amplitude	decreased miniature inhibitory postsynaptic current frequency
Availability	Mouse Genotype	abnormal single cell response	abnormal miniature inhibitory postsynaptic currents
	Gabrb1^m1Qnma/Gabrb1⁺
	Gabrb1^m2Qnma/Gabrb1⁺

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/23/2024 MGI 6.23