The insertion of a neomycin selection cassette disrupted exon 4, which encodes residues of the uracil-binding pocket. The insertion was designed to impair the production of both nuclear and mitochondrial isoforms. Uracil-DNA glycosylase activity was shown to be markedly reduced in cell extracts from homozygous mutant mice. The residual activity was not inhibited by antibodies raised against the encoded protein. (J:63056)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count