Scn8a^nur14

This phenotypic mutant was identified in an ENU mutagenesis screen at the Baylor College of Medicine. A T-to-C nucleotide substitution at position 61 of the cDNA was identified. This results in a substitution of serine residue 21 by proline in the encoded protein. This residue is located close to the N terminus of the channel, and it is evolutionarily conserved in vertebrate sodium channels and in invertebrate sodium channels. The retention of some hindlimb function in the mutant mice suggests that this is not a null allele, since the null mice in this gene develop complete paralysis of the hindlimbs. (J:146758)