Myo15a^m1Btlr

ENU mutagenesis induced a T to C transition at 60,520,914 on chromosome 11, corresponding to base pair 51,576 in GenBank genomic region NC_000077. The mutation is located in the donor splice site of intron 61 in isoform 1, intron 59 in isoform 2a, and intron 60 in isoform 3, two nucleotides from the previous exon in each transcript. The effect of the mutation at the cDNA and protein level of each isoform is unknown. One possibility is that aberrant splicing may result in the skipping of the 161 base pair preceding exon (exon 61 in isoform 1 (shown); alternatively, exon 59 in isoform 2a and exon 60 in isoform 3) and splicing from exon 60 to exon 62 in isoform 1 (alternatively, splicing from exon 58 to exon 60 in isoform 2a or splicing from exon 59 to exon 61 in isoform 3). The aberrant splicing would lead to a deletion of 53 amino acids (amino acids 3244-3297) as well as a frameshift and subsequent coding of a premature stop codon. (J:203906)