ENU mutagenesis induced a C to T transition at base pair 24,372,704 (v38) on chromosome 5, or base pair 7,886 in the GenBank genomic region NC_000071, corresponding to residue 1,734 in the mRNA sequence NM_008713 within exon 13 of 26 total exons. The mutation results in a threonine (T) to isoleucine (I) substitution at position 572 (T572I). (J:225268)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count