Phenotypes Associated with This Genotype

Genotype
MGI:4437766

• Allelic Composition: Tg(Pkd1)26Mtru/0
• Genetic Background: involves: C57BL/6J * CBA/J

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

mortality/aging

premature death ( J:157952 )

• mice die around 6 months of age

growth/size/body

increased heart weight ( J:157952 )

cardiac hypertrophy ( J:157952 )

• mice exhibit evidence of eccentric dilated cardiac hypertrophy

heart left ventricle hypertrophy ( J:157952 )

• left ventricular wall systolic and diastolic thickness are increased compared to in wild-type mice indicating hypertrophy

kidney cyst ( J:157952 )

• at 1 month of age, mice exhibit scattered tubular microcysts unlike wild-type mice

• at 9 months, mice develop cysts unlike wild-type mice

• by 12 to 16 months, mice exhibit severe cysts unlike wild-type mice

• mice develop cysts in the medulla, cortex and glomeruli unlike wild-type mice

• mice develop hemorrhagic cysts unlike wild-type mice

• cysts exhibit proteinaceous casts in tubular cysts and interstitial fibrosis unlike wild-type mice

• cysts originate from the proximal and collecting ducts and glomeruli unlike in wild-type mice

• cysts exhibit calcium deposits

kidney cortex cyst ( J:157952 )

• bilateral

kidney medulla cyst ( J:157952 )

liver cyst ( J:157952 )

• in 5 of 34 mice, likely of cholangiocye origins, and affecting preferentially female mice

muscle

abnormal myocardium layer morphology ( J:157952 )

• altered ventricular vasculature patterns indicate myocardium injury unlike in wild-type mice

heart left ventricle hypertrophy ( J:157952 )

• left ventricular wall systolic and diastolic thickness are increased compared to in wild-type mice indicating hypertrophy

renal/urinary system

increased kidney cell proliferation ( J:157952 )

• proliferation of kidney cells is increased compared to in wild-type mice

kidney cyst ( J:157952 )

• at 1 month of age, mice exhibit scattered tubular microcysts unlike wild-type mice

• at 9 months, mice develop cysts unlike wild-type mice

• by 12 to 16 months, mice exhibit severe cysts unlike wild-type mice

• mice develop cysts in the medulla, cortex and glomeruli unlike wild-type mice

• mice develop hemorrhagic cysts unlike wild-type mice

• cysts exhibit proteinaceous casts in tubular cysts and interstitial fibrosis unlike wild-type mice

• cysts originate from the proximal and collecting ducts and glomeruli unlike in wild-type mice

• cysts exhibit calcium deposits

kidney cortex cyst ( J:157952 )

• bilateral

kidney medulla cyst ( J:157952 )

decreased urine protein level ( J:157952 )

• at 5 to 7 months, urine protein levels are decreased compared to in wild-type mice

increased urine protein level ( J:157952 )

• at 4 months, mice exhibit non-selective proteinuria unlike wild-type mice

hematuria ( J:157952 )

glomerulosclerosis ( J:157952 )

• partial and total

abnormal renal tubule epithelium morphology ( J:157952 )

• cystic and non-cystic tubules exhibit epithelial hyperplasia and hypertrophy with occasional polyps of varying severity unlike wild-type mice

kidney epithelium hyperplasia ( J:157952 )

• at 1 month of age

renal interstitial fibrosis ( J:157952 )

• at 2 to 8 months

dilated renal tubule ( J:157952 )

• at 1 month, mice exhibit mild tubular dilation unlike wild-type mice

renal cast ( J:157952 )

• proteinaceous casts in tubular cysts

nephrocalcinosis ( J:157952 )

• calcium deposits were limited to the renal papilla

nephrolithiasis ( J:157952 )

pale kidney ( J:157952 )

polyuria ( J:157952 )

• at 5 to 7 months

cardiovascular system

abnormal myocardium layer morphology ( J:157952 )

• altered ventricular vasculature patterns indicate myocardium injury unlike in wild-type mice

thick interventricular septum ( J:157952 )

• thickness is increased

increased heart weight ( J:157952 )

cardiac hypertrophy ( J:157952 )

• mice exhibit evidence of eccentric dilated cardiac hypertrophy

heart left ventricle hypertrophy ( J:157952 )

• left ventricular wall systolic and diastolic thickness are increased compared to in wild-type mice indicating hypertrophy

abnormal aortic valve cusp morphology ( J:157952 )

• aortic valve leaflets are opaque rather than translucent as in wild-type mice

aortic valve stenosis ( J:157952 )

• an increase in mean and peak velocity downstream of the aortic valve suggests stenosis

calcified aortic valve ( J:157952 )

• 6 of 15 aortic valves indicate calcification unlike in wild-type mice

thick ventricular wall ( J:157952 )

• left ventricular wall systolic and diastolic thickness are increased compared to in wild-type mice indicating hypertrophy

cardiac fibrosis ( J:157952 )

• 35% to 40% of mice exhibit a 2- to 4-fold increase in cardiac fibrosis compared with wild-type mice

dilated heart ( J:157952 )

• aortic root diameter and area are increased compared to in wild-type mice

dystrophic cardiac calcinosis ( J:157952 )

• some mice exhibit calcification of the ventricular walls, myocardium, and aortic valve unlike wild-type mice

aneurysm ( J:157952 )

• one mouse exhibited unruptured cerebral aneurysms unlike wild-type mice

increased cardiac output ( J:157952 )

increased cardiac stroke volume ( J:157952 )

subarachnoid hemorrhage ( J:157952 )

• mice exhibit subarachnoid hemorrhages unlike in wild-type mice

hypertension ( J:157952 )

• in some mice

liver/biliary system

increased hepatocyte proliferation ( J:157952 )

liver cyst ( J:157952 )

• in 5 of 34 mice, likely of cholangiocye origins, and affecting preferentially female mice

liver fibrosis ( J:157952 )

• mice exhibit broad band fibrosis along intrahepatic ducts unlike wild-type mice

• hepatic fibrosis is 4- to 5-fold greater than in wild-type mice

nervous system

subarachnoid hemorrhage ( J:157952 )

• mice exhibit subarachnoid hemorrhages unlike in wild-type mice

abnormal cerebellum development ( J:157952 )

• the cerebellum is underdeveloped, small in size, or constricted unlike in wild-type mice

hydrocephaly ( J:157952 )

• in some mice

dilated brain ventricle ( J:157952 )

• some mice exhibit ventricular dilation unlike in wild-type mice

small cerebellum ( J:157952 )

• the cerebellum is underdeveloped, small in size, or constricted unlike in wild-type mice

skeleton

abnormal sagittal suture morphology ( J:157952 )

• open in some mice

hematopoietic system

decreased hematocrit ( J:157952 )

• at 6 months

homeostasis/metabolism

increased blood osmolality ( J:157952 )

• at 6 months

increased circulating phosphate level ( J:157952 )

increased circulating sodium level ( J:157952 )

• at 6 months

decreased urine protein level ( J:157952 )

• at 5 to 7 months, urine protein levels are decreased compared to in wild-type mice

increased urine protein level ( J:157952 )

• at 4 months, mice exhibit non-selective proteinuria unlike wild-type mice

hematuria ( J:157952 )

craniofacial

abnormal sagittal suture morphology ( J:157952 )

• open in some mice

cellular

increased kidney cell proliferation ( J:157952 )

• proliferation of kidney cells is increased compared to in wild-type mice

increased hepatocyte proliferation ( J:157952 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive polycystic kidney disease		DOID:0110861	OMIM:263200	J:157952