ENU mutagenesis induced an A to G transition at base pair 79,887,108 (v38) on chromosome 10, or base pair 797 in the GenBank genomic region NC_000076. The mutation corresponds to residue 370 in the mRNA sequence NM_015779 within exon 4 of 5 total exons. The mutation results in an aspartic acid (D) to glycine (G) substitution at position 116 (D116G) in the neutrophil elastase protein. (J:218967)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count