Kcnq1^em1Ssto
Endonuclease-mediated Allele Detail

Summary

• Symbol: Kcnq1^em1Ssto
• Name: potassium voltage-gated channel, subfamily Q, member 1; endonuclease-mediated mutation 1, Signe S Torekov
• MGI ID: MGI:7256636
• Synonyms: KCNQ1^A340V
• Gene: Kcnq1 Location: Chr7:142660614-142980787 bp, + strand Genetic Position: Chr7, 88.12 cM
• Alliance: Kcnq1^em1Ssto page

Mutation origin

• Strain of Origin: 129 and C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated a GCA to GTT change resulting in an alanine to valine substitution at residue 340 (A340V). This mutation is common in long QT syndrome 1 patients. (J:322020)

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 Kcnq1 Mutation: 42 strains or lines available

References

• Original: J:322020 Lubberding AF, et al., Age-dependent transition from islet insulin hypersecretion to hyposecretion in mice with the long QT-syndrome loss-of-function mutation Kcnq1-A340V. Sci Rep. 2021 Jun 10;11(1):12253
• All: 1 reference(s)