About   Help   FAQ
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 (166 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
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

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

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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
09/22/2022
MGI 6.21
The Jackson Laboratory