ENU mutagenesis induced a T to C transition at base pair 36,781,412 (v38) on chromosome 1, or base pair 19,615 in the GenBank genomic region NC_000067, corresponding to residue 1,849 in the mRNA sequence NM_001289766 within exon 12 of 13 total exons. The mutated nucleotide is indicated in red. The mutation results in a cysteine (C) to arginine (R) substitution at residue 563 (C563R) (J:225043)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count