Dst^m1Btlr

ENU mutagenesis induced a T to C transition at base pair 34,165,155 (v38) on chromosome 1, or base pair 256,949 in the GenBank genomic region NC_000067 within the donor splice site of intron 19 in the longest isoform (i.e., DST-b1; NM_134448). The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in an in-frame skipping of the 96-base pair exon 19 (out of 98 total exons). Exon 19 encodes amino acids 778-809 in the DST-b1 protein. Alternatively, a cryptic splice site in exon 19 may be used that would result in a 43-nucleotide deletion in exon 19. Use of a cryptic site would lead to a frame-shift beginning after amino acid 794 of the coded protein and premature termination after the inclusion of 12 aberrant amino acids. (J:218961)