Mouse Genome Informatics
hm
    Pkhd1tm1Gwu/Pkhd1tm1Gwu
Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Cystic kidneys and other phenotypes in Pkd2tm1Gwu/Pkd2tm1Gwu and Pkhd1tm1Gwu/Pkhd1tm1Gwu mice

mortality/aging
• by 12 months of age, mice exhibit more adult mortality than wild-type mice
• fewer than expected mice are born

renal/urinary system
• at 2 months of age, mice exhibit a reduction of glomerular capillary loop formation compared to in wild-type mice
• in vivo and in culture, renal tubular epithelia have fewer and shorter cilia than on wild-type cells
• mice display focal dilation of papillary collecting ducts unlike in wild-type mice
• at 2 months of age, mice exhibit expansion of Bowman's space
• at 2 months of age, mice exhibit increased mesangial cellularity
• mice exhibit massive, fusiform, dilated renal tubules unlike in wild-type mice (J:143124)
• at 1 month, mice exhibit mild to severe tubular dilation with flattening of tubular epithelial cells unlike in wild-type mice (J:143394)
• at 2 months, the severity of tubular dilation is increased (J:143394)
• at 4 months, tubular dilation encompassed 80% of the cortical medulla (J:143394)
• mice exhibit patchy dilation of the proximal tubule
• mice exhibit kidney cysts accompanied by fibrosis and necrosis
• severity of cysts and age of onset varies

liver/biliary system
• mice exhibit dilated renal hepatic central veins with a patchy, periportal, lymphocytic infiltrate unlike in wild-type mice
• mice exhibit areas of hemorrhage and necrosis
• mice exhibit liver cysts accompanied by fibrosis and necrosis with varying severity and age of onset

endocrine/exocrine glands
• mice exhibit dilated pancreatic ducts unlike in wild-type mice (J:143124)

nervous system
• mice exhibit brain cysts or dilated ducts

digestive/alimentary system
• mice exhibit dilated pancreatic ducts unlike in wild-type mice (J:143124)
• mice exhibit hemorrhaging and ulcer-like lesions in the gastrointestinal tract

cardiovascular system
• at 2 months of age, mice exhibit a reduction of glomerular capillary loop formation compared to in wild-type mice

cellular
• in vivo and in culture, renal tubular epithelia have fewer and shorter cilia than on wild-type cells

homeostasis/metabolism

Mouse Models of Human Disease
OMIM IDRef(s)
Polycystic Kidney Disease, Autosomal Recessive; ARPKD 263200 J:143394