Article
Somatic inactivation of Pkd2 results in polycystic kidney disease.
Cell - 17 Apr 1998
Wu G, D'Agati V, Cai Y, Markowitz G, Park J H, Reynolds D M, Maeda Y, Le T C, Hou H, Kucherlapati R, Edelmann W, Somlo S
Abstract excerpt
Germline mutations in PKD2 cause autosomal dominant polycystic kidney disease. We have introduced a mutant exon 1 in tandem with the wild-type exon 1 at the mouse Pkd2 locus. This is an unstable allele that undergoes somatic inactivation by intragenic homologous recombination to produce a true null allele. Mice heterozygous and homozygous for this mutation, as well as Pkd+/- mice, develop polycystic kidney and...
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