ENU-induced T to A transversion at base pair 195,155,888 (v38) on chromosome 1, or base pair 21,303 in the GenBank genomic region NC_000067 encoding Cr2. The mutation corresponds to residue 2,244 in the mRNA sequence NM_007758 within exon 12 of 19 total exons. The mutation results in substitution of cysteine 713 to a premature stop codon (C713*) in the CR2 protein. (J:267527)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count