ENU mutagenesis induced a T to A transition at base pair 65,458,200 (v38) on chromosome 18, or base pair 27,332 in the NC_000071 GenBank genomic region. The mutation corresponds to residue 1,216 in the mRNA sequence NM_172833 within exon 9 of 16 total exons. The mutation results in an asparagine (N) to lysine (K) substitution at position 347 (N347K) in the protein. (J:224671)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count