Mouse Genome Informatics
cn
    Pkd1tm2Ggg/Pkd1tm2Ggg
Tg(Nes-cre)Wme/0

involves: 129S4/SvJae * C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
renal/urinary system
• cyst-lining epithelial cells are highly apoptotic
• cyst-lining epithelial cells are highly proliferative
• -morphologically normal tubules and interstitial cells exhibit increased proliferation
• kidneys show extensive deposition of collagen
• kidneys are enlarged in 49 day old mutants
• mutants develop renal cysts by 49 days of age
• renal cysts arise predominately from collecting duct/distal tubules
• mutants treated with rapamycin exhibit an inhibition of renal cyst growth, a decrease in plasma blood urea nitrogen, fibrosis, and proliferation of cystic cells but show an increases cystic cell apoptosis (but not in normal tubule epithelial cells)

homeostasis/metabolism
• mutants exhibit highly elevated blood urea nitrogen

cellular
• cyst-lining epithelial cells are highly apoptotic
• cyst-lining epithelial cells are highly proliferative
• -morphologically normal tubules and interstitial cells exhibit increased proliferation

Mouse Models of Human Disease
OMIM IDRef(s)
Polycystic Kidney Disease 1; PKD1 173900 J:185855