ENU-induced T to A transversion at base pair 11,769,448 (v38) on chromosome 11, or base pair 84,479 in the GenBank genomic region NC_000077 encoding Ikzf1. The mutation corresponds to residue 1,972 in the mRNA sequence NM_001025597 within exon 8 of 8 total exons. The mutation results in a methionine to lysine substitution at amino acid 472 (M472K) in variant 1 of the IKZF1 protein. (J:265249)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count