The mutation is a T-to-A transversion at base pair 10,031,661 (Build GRCm38) on Chromosome 8, or base pair 25,469 in the GenBank genomic region NC_000074, within the donor splice site of intron 6. The effects of the mutation at the cDNA and protein levels have not been examined, but it is predicted to result in skipping of the 151-nucleotide exon 6 (out of 7 total exons) leading to a frame-shift that results in coding of 34 aberrant amino acids followed by a premature stop codon. (J:220069)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count