Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Kcnq2tm1.1Lvi
Name:	potassium voltage-gated channel, subfamily Q, member 2; targeted mutation 1.1, Laurent Villard
MGI ID:	MGI:6488172
Synonyms:	Kcnq2T274M, Kcnq2Thr274Met
Gene:	Kcnq2  Location: Chr2:180717372-180777093 bp, - strand  Genetic Position: Chr2, 103.57 cM, cytoband H3-4
Alliance:	Kcnq2tm1.1Lvi page

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

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

4 anatomical structure(s)

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:	47 strains or lines available

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)