ENU-induced G to T transversion at base pair 115,451,044 (v38) on chromosome 6, or base pair 90,168 in the GenBank genomic region NC_000072 encoding Pparg. The mutation corresponds to residue 626 in the mRNA sequence NM_011146 within exon 4 of 7 total exons. The mutation results in an arginine (R) to leucine (L) substitution at residue 194 (R194L) in the PPAR protein. (J:265098)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count