2000
Cardiac defects and renal failure in mice with targeted mutations in Pkd2
Wu G, Markowitz G, Li L, D'Agati V, Factor S, Geng L, Tibara S, Tuchman J, Cai Y, Hoon Park J, van Adelsberg J, Hou H, Kucherlapati R, Edelmann W, Somlo S. Cardiac defects and renal failure in mice with targeted mutations in Pkd2. Nature Genetics 2000, 24: 75-78. PMID: 10615132, DOI: 10.1038/71724.Peer-Reviewed Original ResearchConceptsPolycystin-2True null mutationEmbryonic day 13.5Liver cyst formationSomatic rearrangementsNull mutationNull allelesProtein productsUnstable alleleTargeted mutationsPKD2Cardiac septationCyst formationRenal failureDay 13.5MutationsADPKD phenotypeKidney cystsAllelesLong-term survivalFirst indicationDeleterious effectsCalcium channelsMouse modelClinical manifestations
1998
Somatic Inactivation of Pkd2 Results in Polycystic Kidney Disease
Wu G, D'Agati V, Cai Y, Markowitz G, Park J, Reynolds D, Maeda Y, Le T, Hou H, Kucherlapati R, Edelmann W, Somlo S. Somatic Inactivation of Pkd2 Results in Polycystic Kidney Disease. Cell 1998, 93: 177-188. PMID: 9568711, DOI: 10.1016/s0092-8674(00)81570-6.Peer-Reviewed Original ResearchConceptsCellular recessive mechanismIntragenic homologous recombinationExon 1True null alleleMutant exon 1Somatic inactivationPkd2 resultsRenal cyst formationPKD2 proteinPolycystic kidney diseaseHomologous recombinationNull allelesHuman phenotypesPKD2 expressionUnstable alleleSomatic lossPKD2Autosomal dominant polycystic kidney diseaseDominant polycystic kidney diseaseMutationsGermline mutationsRecessive mechanismAllelesInactivationCyst formation