ENU-induced C to T transition at base pair 86,476,851 (v38) on chromosome 17, or base pair 309,298 in the GenBank genomic region NC_000083 encoding Prkce. The mutation corresponds to residue 1,461 in the mRNA sequence NM_011104 within exon 5 of 15 total exons. The mutation results in a threonine (T) to isoleucine (I) substitution at position 218 (T218I) in the PKC protein. (J:267703)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count