| First Author | Harris BS | Year | 2016 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:231578 |
| Mgi Id | MGI:5771911 | Citation | Harris BS, et al. (2016) The spontaneous Scn8am11J mutation. MGI Direct Data Submission |
| abstractText | This eleventh spontaneous mutation in Scn8a identified at The Jackson Laboratory is a C to T transition on Chromosome 15 position 100,959,664 bp, (GRCm38), which is predicted to result in a nonsense mutation from arginine to a termination codon (Cga/Tga) at protein position 138 or 226 depending on the transcript isoform. Homozygotes for this recessive mutation are smaller than normal, are wobbly when they can slowly walk, and develop myotonia and rapidly progressing paralysis, most notably in the hind legs. All die by approximately 3 weeks of age. This mutation mapped to Chromosome 15 distal to rs4230758 and closely linked to rs3023429, consistent with Scn8a, and intercrossing with Scn8a<9J> yielded compound mutants with the same phenotype. |
