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Symbol
Name
ID
Pkhd1
polycystic kidney and hepatic disease 1
MGI:2155808
Phenotype annotations related to renal/urinary system
*Aspects of the system are reported to show a normal phenotype.
!Indicates phenotype varies with strain background.
Darker colors indicate more annotations
Human Phenotypes
Absence of renal corticomedullary differentiation
Tubulointerstitial fibrosis
Enlarged kidney
Renal cyst
Multiple renal cysts
Polycystic kidney dysplasia
Renal hypoplasia/aplasia
Renal insufficiency
Disease(s) Associated with PKHD1
autosomal recessive polycystic kidney disease

Mouse Phenotypes
renal/urinary system phenotype
decreased glomerular capillary number
abnormal renal tubule epithelial cell primary cilium morphology
increased renal tubule apoptosis
decreased kidney cell proliferation
abnormal papillary duct morphology
increased glomerular capsule space
mesangial cell hyperplasia
abnormal kidney epithelium morphology
renal interstitial fibrosis
increased kidney weight
enlarged kidney
abnormal proximal convoluted tubule morphology
proximal convoluted tubule brush border loss
dilated proximal convoluted tubules
dilated renal tubules
kidney cysts
renal glomerulus cysts
renal necrosis
renal 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
11/14/2017
MGI 6.11
The Jackson Laboratory