Insertion of a floxed neomycin resistance cassette into exon 5 near a site corresponding to a known human mutation disrupted the Ercc6 gene. RT-PCR and Western blot analyses of E13.5 fibroblasts from homozygous mutant animals did not detect wild-type transcript or wild-type protein, but indicate that the mutant allele expresses mRNA at low levels. (J:40211)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count