ENU-induced C to T transition at base pair 99,302,230 (v38) on chromosome 14, or base pair 3,540 in the GenBank genomic region NC_000080 encoding Klf5. The mutation corresponds to residue 1,382 in the mRNA sequence NM_009769 within exon 2 of 4 total exons. The mutation results in an arginine (R) to cysteine (C) substitution at position 360 (R360C) in the KLF5 protein. (J:265229)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count