Phenotypes Associated with This Genotype

Genotype
MGI:5519084

• Allelic Composition: Tg(Pkd1*)39Mtru/0
• Genetic Background: involves: C57BL/6J * CBA/J

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

mortality/aging

premature death ( J:198147 )

• mean lifespan is around 17.4 months of age compared to 23-29 months in controls

renal/urinary system

polycystic kidney ( J:198147 )

• very mild renal tubular dilatation is seen around 2 months of age that progresses into polycystic kidney (multiple macro-and micro-cysts) disease with age

renal glomerulus cyst ( J:198147 )

• glomeruli exhibit cysts associated with hyperplasia of the parietal epithelial cells

decreased urine creatinine level ( J:198147 )

decreased urine osmolality ( J:198147 )

increased urine protein level ( J:198147 )

• non-selective proteinuria that is detectable at 12 months of age and increases further with age

decreased urine urea nitrogen level ( J:198147 )

abnormal renal glomerulus morphology ( J:198147 )

• glomerular tufts are hypocellular and become sclerotic

renal interstitial fibrosis ( J:198147 )

• renal parenchyma shows presence of mild to extensive interstitial fibrosis with localized lymphoid infiltrates that are often perivascular

renal tubule atrophy ( J:198147 )

• renal parenchyma exhibits loss of tubules

dilated renal tubule ( J:198147 )

• renal dilatation is first seen around 2 months of age

pale kidney ( J:198147 )

• kidneys become pale over time with an embossed surface

kidney failure ( J:198147 )

• late-onset of renal failure

polyuria ( J:198147 )

• 3-4 fold increase in urine volume, a concentrating defect that progresses with age

hematopoietic system

decreased hematocrit ( J:198147 )

homeostasis/metabolism

increased circulating creatinine level ( J:198147 )

decreased urine creatinine level ( J:198147 )

increased blood urea nitrogen level ( J:198147 )

abnormal ion homeostasis ( J:198147 )

• decrease in urine ion excretion

decreased urine osmolality ( J:198147 )

increased urine protein level ( J:198147 )

• non-selective proteinuria that is detectable at 12 months of age and increases further with age

decreased urine urea nitrogen level ( J:198147 )

growth/size/body

polycystic kidney ( J:198147 )

• very mild renal tubular dilatation is seen around 2 months of age that progresses into polycystic kidney (multiple macro-and micro-cysts) disease with age

renal glomerulus cyst ( J:198147 )

• glomeruli exhibit cysts associated with hyperplasia of the parietal epithelial cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease 1		DOID:0110858	OMIM:173900	J:198147