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Phenotypes Associated with This Genotype
either: (involves: 129S4/SvJae * BALB/c) or (involves: 129S4/SvJae * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1tm2Jzh mutation (0 available); any Pkd1 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• microscopic kidney cysts are seen as early as 2.5 months of age, much earlier than in heterozygous Pkd1tm1Jzh mice
• 70% or 2.5-14.5 month old mice have 2-30 cysts

liver/biliary system
• 48% develop visible liver cysts that are first observed at 11 months of age and all have cysts at later stages (18-24 months)

endocrine/exocrine glands
• 1 of 21 mice develop a pancreatic cyst at 14.5 months of age

Mouse Models of Human Disease
OMIM ID Ref(s)
Polycystic Kidney Disease 1; PKD1 173900 J:72627

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
MGI 6.01
The Jackson Laboratory