Dst^m2Btlr

ENU mutagenesis induced an A to G transition at base pair 34,164,167 (v38) on chromosome 1, or base pair 255,961 in the GenBank genomic region NC_000067 encoding Dst. The mutation corresponds to residue 2,156 in the muscle-specific Dst isoform (Dst-b1; NM_134448) within exon 17 of 98 total exons residue 2,156 in the neuron-specific Dst isoform (Dst-a1; NM_133833) within exon 17 of 93 total exons, and residue 1,178 in the epithelial-specific Dst isoform (Dst-e; NM_010081) within exon 7 of 24 total exons. The mutation results in a glutamic acid (E) to glycine (G) substitution at position 719 (E719G) in the DST-b1 protein, a glutamic acid (E) to glycine (G) substitution at position 419 (E419G) in the DST-a1 protein, and a glutamic acid (E) to glycine (G) substitution at position 393 (E393G) in the DST-e protein. (J:218962)