ENU-induced G to A transition at base pair 135,626,710 (v38) on chromosome 3, or base pair 65,273 in the GenBank genomic region NC_000069. The mutation corresponds to residue 785 in the mRNA sequence NM_008689 within exon 7 of 25 total exons. The mutation results in a valine to isoleucine substitution at position 95 (V95I) in the NF-B1 protein. (J:265169)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count