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Protein Coding Gene : Gabrb1 gamma-aminobutyric acid type A receptor subunit beta 1

Primary Identifier  MGI:95619 Organism  mouse, laboratory
Chromosome  5 NCBI Gene Number  14400
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Enables G protein-coupled neurotransmitter receptor activity involved in regulation of presynaptic membrane potential. Acts upstream of or within G protein-coupled receptor signaling pathway and regulation of presynaptic membrane potential. Is active in GABA-ergic synapse and Schaffer collateral - CA1 synapse. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in autistic disorder and developmental and epileptic encephalopathy 45. Orthologous to human GABRB1 (gamma-aminobutyric acid type A receptor subunit beta1).
PHENOTYPE: Mice heterozygous for an ENU or spontaneous mutation exhibit alcohol preference with increased tonic inhibition, female infertility and hypothalamic pituitary axis dysfunction. [provided by MGI curators]
  • synonyms:
  • MGI:2443656,
  • Gabrb1,
  • MGI:2141149,
  • expressed sequence AW061132,
  • AW061132,
  • MGD-MRK-9936,
  • RIKEN cDNA B230208N19 gene,
  • Gabrb-1,
  • MGD-MRK-9933,
  • gamma-aminobutyric acid (GABA) A receptor, subunit beta 1,
  • B230208N19Rik,
  • gamma-aminobutyric acid type A receptor subunit beta 1

Features --> Cross References

Genome

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0 Canonical

0 CDSs

0 Exons

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4 Involved In Mutations

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0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

4 Pathways

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Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

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