Myo5a^d-2Btlr

The mutation is a G-to-A transition in the donor splice site of intron 9 (position 72979 in the Genbank genomic region NC_000075). The mutation weakens the donor splice site, which results in skipping of exon 9 (of 41 total exons) in a proportion of transcripts; this was verified by cDNA sequence analysis. Loss of exon 9 shifts the reading frame, resulting in incorporation of incorrect amino acids after position 151 of the protein, and creates a premature stop codon that would terminate the protein after amino acid 325, in the head region. (J:133118)