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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
Hepatosplenomegaly
Hepatic fibrosis
Congenital hepatic fibrosis
Periportal fibrosis
Abnormal intrahepatic bile duct morphology
Biliary hyperplasia
Cholangiocarcinoma
Cholangitis
Cholestasis
Jaundice
Hepatoblastoma
Disease(s) Associated with PKHD1
autosomal recessive polycystic kidney disease

Mouse Phenotypes
abnormal cholangiocyte primary cilium morphology
hepatic necrosis
abnormal bile duct morphology
abnormal bile duct development
abnormal bile duct epithelium morphology
bile duct epithelium hyperplasia
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
liver cyst
enlarged liver
increased liver weight
bile duct inflammation
abnormal hepatobiliary system morphology
abnormal biliary tract morphology
abnormal liver development
abnormal liver morphology
liver fibrosis
Availability Mouse Genotype
Pkhd1cyli/Pkhd1cyli
Pkhd1em1Mrug/Pkhd1em1Mrug
Pkhd1tm1.1Ggg/Pkhd1tm1.1Ggg
Pkhd1tm1Cjwa/Pkhd1tm1Cjwa
Pkhd1tm1Gwu/Pkhd1tm1Gwu
Pkhd1tm1Rbu/Pkhd1tm1Rbu
Pkhd1tm1Som/Pkhd1tm1Som
Pkhd1tm1Sswi/Pkhd1tm1Sswi
Pkhd1tm2Cjwa/Pkhd1tm2Cjwa
Pkhd1em1Mrug/Pkhd1+

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
04/23/2024
MGI 6.23
The Jackson Laboratory