Gabrb3^tm1.1Rmac
Targeted Allele Detail

Summary

• Symbol: Gabrb3^tm1.1Rmac
• Name: GABRB3, gamma-aminobutyric acid type A receptor subunit beta 3; targeted mutation 1.1, Robert Macdonald
• MGI ID: MGI:6449209
• Synonyms: Gabrb3^D120N
• Gene: Gabrb3 Location: Chr7:57240266-57478550 bp, + strand Genetic Position: Chr7, 33.53 cM
• Alliance: Gabrb3^tm1.1Rmac page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:292112
• Parent Cell Line: PRX-B6N (ES Cell)
• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: The targeting construct was designed to insert an FRT-flanked neomycin (neo) resistance cassette downstream of exon 4 of the gene. A GAC to AAC mutation (G358A) was introduced in exon 4, converting an aspartic acid to an asparagine (D120N) similar to a mutation found in humans with Lennox-Gastaut Syndrome (LGS). Flp-mediated recombination removed the FRT-flanked neo cassette. (J:292112)

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Gabrb3 Mutation: 32 strains or lines available

References

• Original: J:292112 Qu S, et al., GABAA receptor beta3 subunit mutation D120N causes Lennox-Gastaut syndrome in knock-in mice. Brain Commun. 2020;2(1):fcaa028
• All: 1 reference(s)