The coding sequence was replaced with a floxed neomycin resistance cassette and a modified coding sequence in which a G to T point mutation results in the amino acid substitution of aspartic acid for glutamic acid at position 160 (E160D). Cre-mediated recombination removed the selection cassette. The E160D mutation abolishes >90% of the 5' exonuclease (EXO) and gap-dependent endonuclease (GEN) activities but retains the flap-specific endonuclease (FEN) protein activity, representing mutations identified in human cancers. Western blot analysis revealed that protein expression is unaffected in MEF lysates from heterozygous and homozygous mutant mice. (J:231218)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count