ENU mutagenesis induced an C to T transition at base pair 124867746 (v38) on chromosome 6, or base pair 20,465 in the GenBank genomic region NC_000072. The mutation corresponds to residue 1,245 in the NM_013488 mRNA sequence in exon 7 of 10 total exons. The mutation results in substitution of a premature stop codon (*) for glutamine (Q) at amino acid 359. (J:212900)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count