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	Reduced renal corticomedullary differentiation	Enlarged kidney	Polycystic kidney dysplasia	Oliguria	Renal insufficiency	Acute kidney injury	Stage 5 chronic kidney disease	Recurrent urinary tract infections
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 mesangial cell number

increased renal tubule apoptosis

renal necrosis

decreased kidney cell proliferation

kidney cyst

renal glomerulus cyst

enlarged kidney

increased kidney weight

abnormal kidney morphology

abnormal papillary duct morphology

abnormal kidney cortex morphology

increased glomerular capsule space

abnormal kidney epithelium morphology

renal interstitial fibrosis

abnormal proximal convoluted tubule morphology

proximal convoluted tubule brush border loss

dilated proximal convoluted tubule

dilated renal tubule

renal fibrosis

Availability

Mouse Genotype

Pkhd1^cyli/Pkhd1^cyli

Pkhd1^em1Mrug/Pkhd1^em1Mrug

Pkhd1^tm1.1Ggg/Pkhd1^tm1.1Ggg

Pkhd1^tm1Cjwa/Pkhd1^tm1Cjwa

Pkhd1^tm1Gwu/Pkhd1^tm1Gwu

Pkhd1^tm1Rbu/Pkhd1^tm1Rbu

Pkhd1^tm1Som/Pkhd1^tm1Som

Pkhd1^tm1Sswi/Pkhd1^tm1Sswi

Pkhd1^tm2Cjwa/Pkhd1^tm2Cjwa

Pkhd1^em1Mrug/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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