ENU-induced T to C transition at base pair 44,869,169 (v38) on chromosome 11, or base pair 251,070 in the GenBank genomic region NC_000077 encoding Ebf1. The mutation corresponds to residue 711 in the mRNA sequence NM_007897 within exon 7 of 16 total exons. The mutation results in substitution of phenylalanine 211 for a serine (F211S) in all variants of the EBF1 protein. (J:265158)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count