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).
Gregg E Homanics, University of Pittsburgh
Genetic Background | Generation |
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|
Allele Type | Gene Symbol | Gene Name |
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Targeted (Null/Knockout) | Gabrb3 | gamma-aminobutyric acid (GABA) A receptor, subunit beta 3 |
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 Gabrb3tm1Geh 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).
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 Name | targeted mutation 1, Gregg E Homanics |
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Allele Type | Targeted (Null/Knockout) |
Allele Synonym(s) | beta3- |
Gene Symbol and Name | Gabrb3, gamma-aminobutyric acid (GABA) A receptor, subunit beta 3 |
Gene Synonym(s) | |
Strain of Origin | (129X1/SvJ x 129S1/Sv)F1-Kitl+ |
Chromosome | 7 |
Molecular Note | A neomycin resistance cassette replaced 2.8 kb of sequence, including exons 1-3. |
Mutations Made By | Gregg Homanics, University of Pittsburgh |
This strain is currently maintained on a mixed C57BL/6J x 129 genetic background. It is maintained by mating heterozygous mice to normal wildtype siblings.
When using the B6;129-Gabrb3tm1Geh/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #002711 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Heterozygous or Wild-type for Gabrb3<tm1Geh> |
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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