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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 (137 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
liver/biliary system
• 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
• mice develop progressive polycystic liver disease beginning at 3 months of age
• liver is completely replaced by cysts at 12 months of age
• visible by histology at 1 month of age

renal/urinary system
• 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
• only observed in females

endocrine/exocrine glands
N
• pancreas to body weight ratio is not significant for any timepoint when 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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/13/2017
MGI 6.10
The Jackson Laboratory