ENU mutagenesis induced a G to A transition at base pair 80,288,217 (v38) on chromosome 9, or base pair 123,242 in the GenBank genomic region NC_000075 within the donor splice site of intron 26. The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in skipping of the 209-nucleotide exon 26 (out of 33 total exons), resulting in a frame-shift and coding of two aberrant amino acids followed by a premature stop codon after amino acid 888. (J:217799)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count