Kcnq2^tm1.1Lvi
Targeted Allele Detail

Summary

• Symbol: Kcnq2^tm1.1Lvi
• Name: potassium voltage-gated channel, subfamily Q, member 2; targeted mutation 1.1, Laurent Villard
• MGI ID: MGI:6488172
• Synonyms: Kcnq2^T274M, Kcnq2^Thr274Met
• Gene: Kcnq2 Location: Chr2:180717372-180777093 bp, - strand Genetic Position: Chr2, 103.57 cM, cytoband H3-4
• Alliance: Kcnq2^tm1.1Lvi page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:298666
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S2/SvPasOrlRj

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: An ACC to ATG change resulting in a threonine to methionine substitution at amino acid 274 (T274M) was introduced in exon 3d. This is a recurrent pathogenic variant identified in several patients with developmental and epileptic encephalopathy. A loxP flanked neomycin resistance cassette was also inserted upstream of exon 3d and removed via cre-mediated recombination. (J:298666)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

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 Kcnq2 Mutation: 50 strains or lines available

References

• Original: J:298666 Milh M, et al., A knock-in mouse model for KCNQ2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment. Epilepsia. 2020 May;61(5):868-878
• All: 2 reference(s)