Phenotypes Associated with This Genotype

Genotype
MGI:5430604

• Allelic Composition: Pkd1^tm2Ggg/Pkd1^tm2Ggg; Tg(Nes-cre)Wme/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

renal/urinary system

increased kidney apoptosis ( J:185855 )

• cyst-lining epithelial cells are highly apoptotic

increased kidney cell proliferation ( J:185855 )

• cyst-lining epithelial cells are highly proliferative

• -morphologically normal tubules and interstitial cells exhibit increased proliferation

abnormal kidney morphology ( J:185855 )

• kidneys show extensive deposition of collagen

kidney cyst ( J:185855 )

• 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)

enlarged kidney ( J:185855 )

• kidneys are enlarged in 49 day old mutants

renal fibrosis ( J:185855 )

homeostasis/metabolism

increased blood urea nitrogen level ( J:185855 )

• mutants exhibit highly elevated blood urea nitrogen

cellular

increased kidney apoptosis ( J:185855 )

• cyst-lining epithelial cells are highly apoptotic

increased kidney cell proliferation ( J:185855 )

• cyst-lining epithelial cells are highly proliferative

• -morphologically normal tubules and interstitial cells exhibit increased proliferation

growth/size/body

kidney cyst ( J:185855 )

• 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)

enlarged kidney ( J:185855 )

• kidneys are enlarged in 49 day old mutants

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease 1		DOID:0110858	OMIM:173900	J:185855