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Phenotypes Associated with This Genotype
Genotype
MGI:3814175
Allelic
Composition
Pkhd1tm1Cjwa/Pkhd1tm1Cjwa
Genetic
Background
involves: 129S6/SvEvTac * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkhd1tm1Cjwa mutation (1 available); any Pkhd1 mutation (137 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• in older female mice in dilated tubules the brush border is attenuated or in extreme cases lost
• in females at 9 months of age, surface blebs are seen on cilia and some cilia appear as branched clumps
• in female mice at 15 months of age cilia on the lining of cysts are usually stunted and highly branched
• dilation is confined to the proximal tubules in females at 9 - 15 months of age
• dilation in females increases from 9 to 12 months of age
• Background Sensitivity: dilation occurs later on a mixed background compared to congenic mice on either BALB/cJ or C57BL/6J backgrounds
• dilation is not seen in males at up to 18 months of age
• females begin to develop cystic dilation in the outer stripe of the outer medulla and inner cortex at around 9 months of age

liver/biliary system
• primary cilia are shorter and often misshapen with multiple blebs in biliary trees affected by cystic changes
• in early stages proliferation is seen in portal areas as primitive tortuous ducts and reactive stroma
• 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

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

endocrine/exocrine glands
• primary cilia are shorter and often misshapen with multiple blebs in biliary trees affected by cystic changes
• duct walls are thickened and lined with hyperplastic columnar epithelium
• ducts are dilated
• in early stages proliferation is seen in portal areas as primitive tortuous ducts and reactive stroma
• 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

cellular
• primary cilia are shorter and often misshapen with multiple blebs in biliary trees affected by cystic changes

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autosomal recessive polycystic kidney disease DOID:0110861 OMIM:263200
J:140302


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/11/2017
MGI 6.10
The Jackson Laboratory