Gabra2^{C57BL/6J+em1Geh}
Endonuclease-mediated Allele Detail

Summary

• Symbol: Gabra2^{C57BL/6J+em1Geh}
• Name: gamma-aminobutyric acid type A receptor subunit alpha 2; endonuclease-mediated revertant 1, Gregg E Homanics
• MGI ID: MGI:6381661
• Synonyms: Gabra2^em1Geh, Gabra2^KI, Rr126^{C57BL/6J+em1Geh}
• Gene: Gabra2 Location: Chr5:71115735-71253192 bp, - strand Genetic Position: Chr5, 37.59 cM
• Alliance: Gabra2^{C57BL/6J+em1Geh} page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Modified regulatory region)
• Mutations: Insertion, Single point mutation
• Mutation details: CRISPR/Cas9 was used to insert a single base pair (A on negative strand) between chr5:71171981-71171982 (GRCm39) to correct the spontaneous deletion of an A in intron 4 that is inherent in the C57BL/6J and BXD40 strains. This restores the allele to the "wild-type" form as found in C57BL/6NJ, C57BL/6ByJ, C57BL/6EiJ, DBA/2J and others. (J:280223)
• Inheritance: Dominant

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 Gabra2 Mutation: 37 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: 3 reference(s)