Primary Identifier | MGI:6488172 | Allele Type | Targeted |
Attribute String | Not Specified | Gene | Kcnq2 |
Transmission | Germline | Strain of Origin | 129S2/SvPasOrlRj |
Is Recombinase | false | Is Wild Type | false |
molecularNote | 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. |