ENU-induced C to A transversion at base pair 11,748,464 (v38) on chromosome 11, or base pair 63,496 in the GenBank genomic region NC_000077 encoding Ikzf1. The mutation corresponds to residue 872 in the mRNA sequence NM_001025597 within exon 4 of 8 total exons. The mutation results in substitution of serine 105 for a premature stop codon (S105*) in variant 1 of the IKZF1 protein. (J:265250)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count