ENU-induced G to T transversion at base pair 44,883,814 (v38) on chromosome 11, or base pair 251,075 in the GenBank genomic region NC_000077. The mutation corresponds to residue 716 in the mRNA sequence NM_001290709 within exon 8 of 16 total exons. The mutation results in a valine to phenylalanine substitution at position 213 (V213F) in the EBF1 protein. (J:272842)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count