Mouse Genome Informatics
hm
    Pkhd1tm1Cjwa/Pkhd1tm1Cjwa
involves: 129S6/SvEvTac * FVB
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
renal/urinary system
• in older female mice in dilated tubules the brush border is attenuated or in extreme cases lost (J:140302)
• in females at 9 months of age, surface blebs are seen on cilia and some cilia appear as branched clumps (J:140302)
• in female mice at 15 months of age cilia on the lining of cysts are usually stunted and highly branched (J:140302)
• dilation is confined to the proximal tubules in females at 9 - 15 months of age (J:140302)
• dilation in females increases from 9 to 12 months of age (J:140302)
• Background Sensitivity: dilation occurs later on a mixed background compared to congenic mice on either BALB/cJ or C57BL/6J backgrounds (J:140302)
• dilation is not seen in males at up to 18 months of age (J:140302)
• females begin to develop cystic dilation in the outer stripe of the outer medulla and inner cortex at around 9 months of age (J:140302)

liver/biliary system
• primary cilia are shorter and often misshapen with multiple blebs in biliary trees affected by cystic changes
• seen in all mice by 1 month of age
• worsens with age
• increase in the liver to body weight ratio by 9 months of age
• livers are often massively enlarged occupying much of the abdominal cavity
• develop fibrocystic liver disease
• by 12 - 15 months of age, most of the liver is replaced with cysts
• develop fibrocystic liver disease
• by 6 - 9 months of age, portal fibrosis is evident
• in early stages proliferation is seen in portal areas as primitive tortuous ducts and reactive stroma

digestive/alimentary system
• duct walls are thickened and lined with hyperplastic columnar epithelium
• ducts are dilated

endocrine/exocrine glands
• duct walls are thickened and lined with hyperplastic columnar epithelium
• ducts are dilated
• primary cilia are shorter and often misshapen with multiple blebs in biliary trees affected by cystic changes
• seen in all mice by 1 month of age
• worsens with age
• in some mice the pancreas is enlarged and markedly cystic
• dilated cysts are lined with hyperplastic columnar epithelium surrounded by fibrotic stroma
• microscopic cysts were seen in 44 of 92 mice

Mouse Models of Human Disease
OMIM IDRef(s)
Polycystic Kidney Disease, Autosomal Recessive; ARPKD 263200 J:140302