B6;129-Gabrb3^tm1Geh/J

Stock number: 002711
Research areas: Cell Biology Research, Developmental Biology Research, Neurobiology Research

Description

These beta3-mutant mice lack the beta3 coding region of the Gabrb3 (gamma-aminobutyric acid (GABA-A) receptor, subunit beta 3) locus and may be useful in studying neurodevelopmental disorders such as cleft palate, seizures, epilepsy, and sensitivity to anesthetics and ethanol. In addition, the observed behavioral deficits (especially regarding social behaviors) indicate that mutant mice may be a useful model of autism spectrum disorders.

Of note, several strains bearing gamma-aminobutyric acid (GABA-A) receptor mutations are available from this donating investigator (Dr. Gregg Homanics, University of Pittsburgh), including Gabra1 (Stock No. 004318), Gabra4 (Stock No. 006874), Gabra6 (Stock No. 002710), Gabrb3 (Stock No. 002711), Gabrd (Stock No. 003725), and Gabrg2 (Stock No. 003137).

Detailed description

The gamma-Aminobutyric acid type A receptors mediate the majority of rapid inhibitory synaptic transmission in the CNS. The beta3 subunit is an essential component of these receptors in many brain regions, especially during development, and is implicated in several pathophysiologic processes. The majority of mice homozygous for the Gabrb3^tm1Geh mutation (or beta3-/-) die at birth with ~60% displaying cleft palate and the remaining ~35% die for unidentified reasons. Homozygous females that survive are fertile but do not care for their pups. Survivors have frequent myoclonus and occasional epileptic seizures, are hypersensitive to external stimuli and handling, have a lack of coordination and display altered responses to certain anesthesias. In addition, the observed behavioral deficits (especially regarding social behaviors) indicate that mutant mice may be a useful model of autism spectrum disorders.

Of note, several strains bearing gamma-aminobutyric acid (GABA-A) receptor mutations are available from this donating investigator (Dr. Gregg Homanics, University of Pittsburgh), including Gabra1 (Stock No. 004318), Gabra4 (Stock No. 006874), Gabra6 (Stock No. 002710), Gabrb3 (Stock No. 002711), Gabrd (Stock No. 003725), and Gabrg2 (Stock No. 003137).

Development

This strain was developed in the laboratory of Dr. Gregg Homanics at the University of Pittsburgh. The vector containing Pgk-neo was inserted by homologous recombination and resulted in deletion of the promoter and exons 1 and 2 of the Gabrb3 gene. The 129X1/SvJ x 129S1/Sv-derived R1 ES cell line was used.

Allele

Symbol: Gabrb3^tm1Geh
Name: targeted mutation 1, Gregg E Homanics
MGI accession ID: MGI:1857174
Generation method: Targeted
Attributes: Null/Knockout
Synonyms: beta3-
Marker symbol: Gabrb3
Marker name: gamma-aminobutyric acid (GABA) A receptor, subunit beta 3
Marker synonyms: A230092K12Rik; beta3; DEE43; ECA5; EIEE43; Gabrb-3
Chromosome: 7
Strain of origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺
Molecular note: A neomycin resistance cassette replaced 2.8 kb of sequence, including exons 1-3.