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Phenotypes Associated with This Genotype
Genotype
MGI:5438332
Allelic
Composition
Pkhd1tm2Cjwa/Pkhd1tm2Cjwa
Genetic
Background
either: B6.129(Cg)-Pkhd1tm2Cjwa or C.129(Cg)-Pkhd1tm2Cjwa
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkhd1tm2Cjwa mutation (2 available); any Pkhd1 mutation (222 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
liver/biliary system
• mice develop progressive polycystic liver disease beginning at 3 months of age
• liver is completely replaced by cysts at 12 months of age
• significant increase in liver to body weight ratios in both sexes at 6, 9 and 12 months of age as compared to Pkhd1tm2.1Cjwa mice
• visible by histology at 1 month of age

renal/urinary system
• only observed in females
• significant increase in kidney to body weight ratios in both sexes at 9 months of age as compared to Pkhd1tm2.1Cjwa mice
• significant increase in kidney to body weight ratios in females, but not males at 12 months of age as compared to Pkhd1tm2.1Cjwa mice
• females, but not males, develop proximal tubule dilation at 3 to 6 months of age

endocrine/exocrine glands
N
• pancreas to body weight ratio is not significant for any timepoint when compared to Pkhd1tm2.1Cjwa mice

growth/size/body
• only observed in females
• mice develop progressive polycystic liver disease beginning at 3 months of age
• liver is completely replaced by cysts at 12 months of age
• significant increase in kidney to body weight ratios in both sexes at 9 months of age as compared to Pkhd1tm2.1Cjwa mice
• significant increase in kidney to body weight ratios in females, but not males at 12 months of age as compared to Pkhd1tm2.1Cjwa mice
• significant increase in liver to body weight ratios in both sexes at 6, 9 and 12 months of age as compared to Pkhd1tm2.1Cjwa mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autosomal recessive polycystic kidney disease DOID:0110861 OMIM:263200
J:187735


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
03/19/2024
MGI 6.23
The Jackson Laboratory