Slc6a1^em1Jqk
Endonuclease-mediated Allele Detail

Summary

• Symbol: Slc6a1^em1Jqk
• Name: solute carrier family 6 (neurotransmitter transporter, GABA), member 1; endonuclease-mediated mutation 1, Jing-Qiong Kang
• MGI ID: MGI:7413190
• Synonyms: Slc6a1^A288V
• Gene: Slc6a1 Location: Chr6:114259735-114294491 bp, + strand Genetic Position: Chr6, 53.05 cM, cytoband E3
• Alliance: Slc6a1^em1Jqk page

Mutation origin

• Strain of Origin: Not Applicable

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Single point mutation
• Mutation details: CRISPR-targeting of exon 9 introduced a C to T nucleotide substitution that results in the amino acid substitution of alanine with valine at position 288 (A288V). (J:330808)

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 Slc6a1 Mutation: 48 strains or lines available

References

• Original: J:330808 Mermer F, et al., Astrocytic GABA transporter 1 deficit in novel SLC6A1 variants mediated epilepsy: Connected from protein destabilization to seizures in mice and humans. Neurobiol Dis. 2022 Oct 1;172:105810
• All: 2 reference(s)