ENU-induced G to T transversion at base pair 16,691,716 (v38) on chromosome 1, or base pair 3,261 in the GenBank genomic region NC_000067 encoding Ly96. The mutation corresponds to residue 197 in the mRNA sequence NM_016923 within exon 2 of 5 total exons. The mutation results in substitution of glutamic acid 49 (E49) for a premature stop codon (E49*) in the MD-2 protein. (J:265259)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count