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Phenotypes Associated with This Genotype
Genotype
MGI:5430995
Allelic
Composition
Pkhd1tm1Sswi/Pkhd1tm1Sswi
Genetic
Background
B6.Cg-Pkhd1tm1Sswi
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkhd1tm1Sswi mutation (0 available); any Pkhd1 mutation (137 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
• dilated extrahepatic bile ducts in 2 of 12 mice at 1 year of age
• ductal plate malformation
• intrahepatic and extrahepatic
• gallbladder cysts in 2 of 12 mice at 1 year of age

liver/biliary system
• dilated extrahepatic bile ducts in 2 of 12 mice at 1 year of age
• ductal plate malformation
• intrahepatic and extrahepatic
• gallbladder cysts in 2 of 12 mice at 1 year of age
• periportal

renal/urinary system
• in the renal cortex and medualla
• at 45 days, mice develop cysts in the proximal tubules, collecting ducts and glomeruli that progress during adulthood
• macrocysts are primarily located in the corticomedullary junction
• at 9 months, all mice exhibit severe cystic kidney disease

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autosomal recessive polycystic kidney disease DOID:0110861 OMIM:263200
J:186064


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
09/12/2017
MGI 6.10
The Jackson Laboratory