Gabra2^C57BL/6J
Spontaneous Allele Detail

Summary

• Symbol: Gabra2^C57BL/6J
• Name: gamma-aminobutyric acid type A receptor subunit alpha 2; C57BL/6J variant
• MGI ID: MGI:6381624
• Synonyms: Gabra2^B6J
• Gene: Gabra2 Location: Chr5:71115735-71253192 bp, - strand Genetic Position: Chr5, 37.59 cM
• Alliance: Gabra2^C57BL/6J page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Spontaneous (Hypomorph)
• Mutation: Single point mutation
• Mutation details: This is spontaneous intronic single nucleotide deletion (a shortening of the homopolymer stretch of AAAA to AAA at Chr5:71,014,639-641 (GRCm38)). It is near a spice acceptor site and causes a substantial decrease in expression at the mRNA and protein levels in homozygous brain, with additional decreases in Gabra1, Gabra3, and Gabra5 transcripts in striatum This allele can be phenoytpically reversed entirely by the correction of this intronic point deletion (see Gabra2^{C57BL/6J+em1Geh}). (J:280223)
• Inheritance: Recessive

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Gabra2 Mutation: 36 strains or lines available

References

• Original: J:280223 Mulligan MK, et al., Identification of a Functional Non-coding Variant in the GABA A Receptor alpha2 Subunit of the C57BL/6J Mouse Reference Genome: Major Implications for Neuroscience Research. Front Genet. 2019;10:188
• All: 18 reference(s)