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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 (2 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
• seen at 4 days of age
• 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

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

Mouse Models of Human Disease
OMIM ID Ref(s)
Polycystic Kidney Disease, Autosomal Recessive; ARPKD 263200 J:33739


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
09/13/2016
MGI 6.05
The Jackson Laboratory