Tyrp1^b-3Btlr

ENU-induced T to A transversion at base pair 80,840,806 (v38) on chromosome 4, or base pair 6,599 in the GenBank genomic region NC_000070. The mutation is within the donor splice site of intron 4, 2 base pairs from the previous exon (exon 4 out of 8 total exons). The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in the use of a cryptic site in intron 4, resulting in a transcript that has a 61 base pair insertion in intron 4. The insertion would cause a frame-shifted protein product beginning after amino acid 304 of the protein, and premature termination after the inclusion of 17 aberrant amino acids. (J:236678)