Inpp5d^m2Btlr

The molecular lesion is a G to A transition at base pair 87697546 (v38) on chromosome 1 or base pair 77,235 in the GenBank genomic region NC_000067. RT-PCR of blood mRNA using primers within exon 10 and exon 14 yielded two Inpp5d PCR amplicons from the homozygous orange mouse, compared to a single amplicon from the wild-type mouse. Sequence analysis determined that the cDNA amplified from orange blood contained a 197-base pair deletion corresponding to exon 12 (of 27 total exons) in the cDNA transcript ENSMUST00000169754, indicating that the orange mutation abolishes the function of the intron 12 donor splice site. Aberrant splicing results in skipping of exon 12 and the out of frame deletion of the 65 amino acids (amino acids 418-482) encoded by exon 12, resulting in coding of a premature stop codon within exon 13 (amino acid 436 in the wild-type protein). (J:216053)