ENU-induced C to T transition at base pair 113,271,374 (v38) on chromosome 12, or base pair 1,875 in the GenBank genomic region NC_000078 encoding Ighe. The mutation corresponds to residue 1,167 in the cDNA sequence ENSMUST00000137336.2 within exon 4 of 4 total exons. The mutation results in substitution of glutamine (Q) to a premature stop codon (Q389*) in the Ighe protein. (J:267480)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count