Scn8a^Clth

This mutation was identified in a hearing screen of C3H/HeH-backcross progeny of an ENU mutagenized (BALB/cAnN x C3H/HeH)F1 mouse and was shown by microsatellite analysis to reside on the BALB/cAnN chromosome. It has been identified as an adenine to thymine transversion at nucleotide position 2942, in exon 17, that results in replacement by valine of a highly conserved aspartic acid at amino acid position 981 (D981V), six amino acids carboxy-terminal of the sixth transmembrane segment of the second domain (D2S6). (J:155726)