ENU mutagenesis induced a T to C transition at base pair 35,201,674 (v38) on chromosome 17, or base pair 334 in the GenBank genomic region NC_000083. The mutation corresponds to residue 334 in the mRNA sequence NM_013693 within exon 4 of 6 total exons. The mutation results in an isoleucine (I) to threonine (T) substitution at position 56 (I56T). (J:213047)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count