Primary Identifier | MGI:2183462 | Allele Type | Chemically induced (ENU) |
Gene | Scn8a | Inheritance Mode | Recessive |
Strain of Origin | C57BL/6J | Is Recombinase | false |
Is Wild Type | false |
molecularNote | This phenotypic mutant was identified in an ENU mutagenesis screen. A complementation test between nmf2 and Scn8anmf5 revealed that nmf2 is a new allele of Scn8a. Sequence analysis demonstrated that an A-to-C transversion mutation occurred in the coding sequence that is predicted to change asparagine 1370 to threonine. This conserved residue is within the S5-S6 pore loop of transmembrane domain 3. |