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Symbol
Name
ID
Pkhd1
polycystic kidney and hepatic disease 1
MGI:2155808
Phenotype annotations related to liver/biliary system
Darker colors indicate more annotations
Human Phenotypes
Portal hypertension
Hepatomegaly
Biliary tract abnormality
Hepatic cysts
Congenital hepatic fibrosis
Periportal fibrosis
Disease(s) Associated with PKHD1
autosomal recessive polycystic kidney disease

Mouse Phenotypes
abnormal cholangiocyte primary cilium morphology
abnormal bile duct morphology
abnormal bile duct development
abnormal extrahepatic bile duct morphology
abnormal hepatic duct morphology
abnormal intrahepatic bile duct morphology
bile duct hyperplasia
bile duct proliferation
biliary cyst
dilated bile duct
abnormal gallbladder morphology
bile duct inflammation
abnormal hepatobiliary system morphology
abnormal liver development
abnormal liver morphology
increased liver weight
enlarged liver
hepatic necrosis
liver cysts
liver fibrosis
Availability Mouse Genotype
Pkhd1tm1.1Ggg/Pkhd1tm1.1Ggg
Pkhd1tm1Cjwa/Pkhd1tm1Cjwa
Pkhd1tm1Gwu/Pkhd1tm1Gwu
Pkhd1tm1Rbu/Pkhd1tm1Rbu
Pkhd1tm1Som/Pkhd1tm1Som
Pkhd1tm1Sswi/Pkhd1tm1Sswi
Pkhd1tm2Cjwa/Pkhd1tm2Cjwa

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
11/07/2017
MGI 6.11
The Jackson Laboratory