Phenotypes Associated with This Genotype

Genotype
MGI:6317334

• Allelic Composition: Pkd1^tm1.1Pcha/Pkd1^tm2Som; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129 * 129S4/SvJae * C57BL/6 * ICR

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

mortality/aging

premature death ( J:244067 )

• median survival is 206 days

renal/urinary system

polycystic kidney ( J:244067 )

• mice develop polycystic kidney disease

renal interstitial fibrosis ( J:244067 )

abnormal kidney physiology ( J:244067 )

• mice show impaired renal function

increased kidney cell proliferation ( J:244067 )

• increase in cyst epithelial cell proliferation

cellular

abnormal peroxisome morphology ( J:244067 )

• the number of peroxisomes is decreased in kidney cysts

increased kidney cell proliferation ( J:244067 )

• increase in cyst epithelial cell proliferation

decreased fatty acid oxidation ( J:244067 )

• fatty acid oxidation is decreased in kidneys

oxidative stress ( J:244067 )

• reactive oxidative species level is increased in the kidneys

homeostasis/metabolism

decreased fatty acid oxidation ( J:244067 )

• fatty acid oxidation is decreased in kidneys

increased circulating creatinine level ( J:244067 )

• levels are increased at 3, 7, and 15 weeks of age

growth/size/body

polycystic kidney ( J:244067 )

• mice develop polycystic kidney disease

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease 1		DOID:0110858	OMIM:173900	J:244067