Slc12a6^em1Dlp
Endonuclease-mediated Allele Detail

Summary

• Symbol: Slc12a6^em1Dlp
• Name: solute carrier family 12, member 6; endonuclease-mediated mutation 1, Eric Delpire
• MGI ID: MGI:6157844
• Synonyms: KCC3^T991A
• Gene: Slc12a6 Location: Chr2:112096659-112193508 bp, + strand Genetic Position: Chr2, 56.99 cM
• Alliance: Slc12a6^em1Dlp page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Constitutively active)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology was used to introduce an alanine for threonine substitution at codon 991 (T991A) in exon 22. The T991A mutation has been identified in a patient with severe peripheral neuropathy, abolishes Thr⁹⁹¹ phosphorylation, is a gain of function mutation and results in constitutive activity. This line corresponds to line #31. (J:259728)

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 Slc12a6 Mutation: 120 strains or lines available

References

• Original: J:259728 Kahle KT, et al., Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter. Sci Signal. 2016 Aug 2;9(439):ra77
• All: 1 reference(s)