ENU mutagenesis induced an A to T transversion at base pair 43,450,983 (v38) on chromosome 17, or base pair 90,655 in the GenBank genomic region NC_000083. The mutation corresponds to residue 3,834 in the mRNA sequence NM_001081178 within exon 17 of 21 total exons. The mutation results in a serine (S) to cysteine (C) substitution at position 1,190 (S1190C). (J:225045)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count