Gabrg1^em1Ktka
Endonuclease-mediated Allele Detail

Summary

• Symbol: Gabrg1^em1Ktka
• Name: gamma-aminobutyric acid type A receptor subunit gamma 1; endonuclease-mediated mutation 1, Kristopher T Kahle
• MGI ID: MGI:6506870
• Synonyms: Cys188Trp
• Gene: Gabrg1 Location: Chr5:70908390-70999960 bp, - strand Genetic Position: Chr5, 37.43 cM
• Alliance: Gabrg1^em1Ktka page

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a single base change resulting in a cysteine to tryptophan conversion at position 188 (C188W) in exon 5. Three additional silent changes were made to disrupt the PAM and prevent retargeting and to generate a diagnostic Pstl site. This is a variant associated with trigeminal neuralgia. (J:299761)

Disease models

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Gabrg1 Mutation: 36 strains or lines available

References

• Original: J:299761 Dong W, et al., Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia. iScience. 2020 Oct 23;23(10):101552
• All: 1 reference(s)