ENU-induced C to T transition at base pair 76,385,891 (v38) on chromosome 12, or base pair 15,700 in the GenBank genomic region NC_000078. The mutation corresponds to residue 877 in the mRNA sequence NM_178666 within exon 2 of 2 total exons. The mutation results in an threonine to isoleucine substitution at position 217 (T217I) in the ZBTB1 protein. (J:272845)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count