ENU-induced T to C transition at base pair 20,531,752 (v38) on chromosome 14, or base pair 14,822 in the GenBank genomic region NC_000080 encoding Ppp3cb. The mutation corresponds to residue 327 in the mRNA sequence NM_008914 within exon 2 of 14 total exons. The mutation results in a valine to alanine substitution at position 65 (V65A) in the CnAbeta protein. (J:272840)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count