Pcdh15^m3Btlr

ENU mutagenesis induced a T to A transversion at base pair 74,626,844 on chromosome 10, corresponding to base pair 1,526,630 in GenBank genomic region NC_000076. The mutation is located in the donor splice site of intron 33, two nucleotides from the previous exon. The effect of the mutation at the cDNA and protein level is unknown. One possibility is that aberrant splicing may result in the skipping of the 156 base pair exon 33 and splicing from exon 32 to exon 34. The aberrant splicing would lead to a deletion of 52 amino acids as well as a frameshift and subsequent coding of a premature stop codon at amino acid 1506.