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 nu...
Topics
- Alleles
- Animals
- Clone Cells
- Crosses, Genetic
- DNA
- Exons
- Genotype
- Kidney
- Liver
- Loss of Heterozygosity
- Membrane Proteins
- Mice
- Mice, Knockout
- Mutation
- Polycystic Kidney, Autosomal Dominant
- RNA, Messenger
- Recombination, Genetic
- Restriction Mapping