Mouse Genome Informatics
tg
    Tg(Pkd1)26Mtru/0
involves: C57BL/6J * CBA/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• mice die around 6 months of age

renal/urinary system
• proliferation of kidney cells is increased compared to in wild-type mice
• at 5 to 7 months, urine protein levels are decreased compared to in wild-type mice
• at 4 months, mice exhibit non-selective proteinuria unlike wild-type mice
• partial and total
• cystic and non-cystic tubules exhibit epithelial hyperplasia and hypertrophy with occasional polyps of varying severity unlike wild-type mice
• at 1 month of age
• at 2 to 8 months
• at 1 month, mice exhibit mild tubular dilation unlike wild-type mice
• proteinaceous casts in tubular cysts
• 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
• bilateral
• calcium deposits were limited to the renal papilla
• at 5 to 7 months

cardiovascular system
• altered ventricular vasculature patterns indicate myocardium injury unlike in wild-type mice
• thickness is increased
• mice exhibit evidence of eccentric dilated cardiac hypertrophy
• left ventricular wall systolic and diastolic thickness are increased compared to in wild-type mice indicating hypertrophy
• aortic valve leaflets are opaque rather than translucent as in wild-type mice
• an increase in mean and peak velocity downstream of the aortic valve suggests stenosis
• 6 of 15 aortic valves indicate calcification unlike in wild-type mice
• left ventricular wall systolic and diastolic thickness are increased compared to in wild-type mice indicating hypertrophy
• 35% to 40% of mice exhibit a 2- to 4-fold increase in cardiac fibrosis compared with wild-type mice
• aortic root diameter and area are increased compared to in wild-type mice
• some mice exhibit calcification of the ventricular walls, myocardium, and aortic valve unlike wild-type mice
• one mouse exhibited unruptured cerebral aneurysms unlike wild-type mice
• mice exhibit subarachnoid hemorrhages unlike in wild-type mice
• in some mice

liver/biliary system
• in 5 of 34 mice, likely of cholangiocye origins, and affecting preferentially female mice
• 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
• mice exhibit subarachnoid hemorrhages unlike in wild-type mice
• the cerebellum is underdeveloped, small in size, or constricted unlike in wild-type mice
• in some mice
• some mice exhibit ventricular dilation unlike in wild-type mice
• the cerebellum is underdeveloped, small in size, or constricted unlike in wild-type mice

skeleton

hematopoietic system
• at 6 months

homeostasis/metabolism
• at 5 to 7 months, urine protein levels are decreased compared to in wild-type mice
• at 4 months, mice exhibit non-selective proteinuria unlike wild-type mice

craniofacial

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

Mouse Models of Human Disease
OMIM IDRef(s)
Polycystic Kidney Disease, Autosomal Recessive; ARPKD 263200 J:157952