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Phenotypes Associated with This Genotype
Genotype
MGI:3583530
Allelic
Composition
Cys1cpk/Cys1cpk
Genetic
Background
involves: C57BL/6J * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cys1cpk mutation (1 available); any Cys1 mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• uremic mortality is seen in less than 10% of homozygotes at 14-20 days of age

renal/urinary system
• at 4 days of age proximal tubule cysts are seen with focal collecting duct dilations in the cortex and outer medulla and by 8-20 days of age collecting duct cysts expand to replace almost all the normal kidney tissue
• cells lining the proximal tubule cysts and later the collecting duct cysts appear immature
• seen at 4 days of age

homeostasis/metabolism
• azotemia seen at 12 days of age

endocrine/exocrine glands
• all common bile ducts have cysts
• all pancreatic ducts have cysts

liver/biliary system
• all common bile ducts have cysts
• intrahepatic bile duct cysts consisting of focal dilations in the triad region through to the terminal intrahepatic branches without signs of significant periductal proliferation

immune system

hematopoietic system

growth/size/body
• all common bile ducts have cysts
• all pancreatic ducts have cysts
• at 4 days of age proximal tubule cysts are seen with focal collecting duct dilations in the cortex and outer medulla and by 8-20 days of age collecting duct cysts expand to replace almost all the normal kidney tissue
• cells lining the proximal tubule cysts and later the collecting duct cysts appear immature
• intrahepatic bile duct cysts consisting of focal dilations in the triad region through to the terminal intrahepatic branches without signs of significant periductal proliferation
• seen at 4 days of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autosomal recessive polycystic kidney disease DOID:0110861 J:33739


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory