ENU-induced T to C transition at base pair 58,844,770 (GRCm38) on chromosome 1, or base pair 49,543 in the GenBank genomic region NC_000067 encoding caspase-8. The mutation corresponds to residue 1,628 in the mRNA sequence NM_009812, within 8 of 9 exons. The mutation results in a valine to alanine substitution at position 432 (V432A) in isoform 1. (J:255007)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count