Exon 6 was replaced with a modified exon 6 in which a point mutation (AAG to AGG) results in the amino acid substitution of arginine for lysine at position 289 (K289R) and a floxed neo cassette. Cre-mediated recombination removed the neo cassette. This mutation abolishes SUMOylation of Nr5a2. (J:215556)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count