Phenotypes associated with this allele

• Allele Symbol: Pkhd1^tm1Gwu
• Allele Name: targeted mutation 1, Guanqing Wu
• Allele ID: MGI:3826780
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pkhd1^tm1Gwu/Pkhd1^tm1Gwu	involves: C57BL/6	MGI:4936857
hm2	Pkhd1^tm1Gwu/Pkhd1^tm1Gwu	Not Specified	MGI:3826786
cx3	Pkd2^tm2Som/Pkd2^+ Pkhd1^tm1Gwu/Pkhd1^tm1Gwu	involves: 129/Sv * C57BL/6J * SJL	MGI:3826787

Genotype
MGI:4936857

hm1

• Allelic Composition: Pkhd1^tm1Gwu/Pkhd1^tm1Gwu
• Genetic Background: involves: C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

renal/urinary system

increased renal tubule apoptosis ( J:167782 )

• kidneys exhibit increased apoptosis as indicated with increased caspase-3 and TUNEL staining; considerable apoptotic debris is seen in the lumen of renal tubules

decreased kidney cell proliferation ( J:167782 )

• 6-week and 6-month old mice exhibit less cell proliferation in the kidneys than controls as indicated by fewer positive Phospho-Histone H3 staining spots and reduced PCNA staining

cellular

increased renal tubule apoptosis ( J:167782 )

• kidneys exhibit increased apoptosis as indicated with increased caspase-3 and TUNEL staining; considerable apoptotic debris is seen in the lumen of renal tubules

decreased kidney cell proliferation ( J:167782 )

• 6-week and 6-month old mice exhibit less cell proliferation in the kidneys than controls as indicated by fewer positive Phospho-Histone H3 staining spots and reduced PCNA staining

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive polycystic kidney disease		DOID:0110861	OMIM:263200	J:167782

Genotype
MGI:3826786

hm2

• Allelic Composition: Pkhd1^tm1Gwu/Pkhd1^tm1Gwu
• Genetic Background: Not Specified

Cystic kidneys and other phenotypes in Pkd2^tm1Gwu/Pkd2^tm1Gwu and Pkhd1^tm1Gwu/Pkhd1^tm1Gwu mice

mortality/aging

premature death ( J:143394 )

• by 12 months of age, mice exhibit more adult mortality than wild-type mice

prenatal lethality, incomplete penetrance ( J:143394 )

• fewer than expected mice are born

renal/urinary system

decreased glomerular capillary number ( J:143394 )

• at 2 months of age, mice exhibit a reduction of glomerular capillary loop formation compared to in wild-type mice

abnormal renal tubule epithelial cell primary cilium morphology ( J:143394 )

• in vivo and in culture, renal tubular epithelia have fewer and shorter cilia than on wild-type cells

increased mesangial cell number ( J:143394 )

• at 2 months of age, mice exhibit increased mesangial cellularity

renal necrosis ( J:143394 )

kidney cyst ( J:143394 )

• mice exhibit kidney cysts accompanied by fibrosis and necrosis

• severity of cysts and age of onset varies

abnormal papillary duct morphology ( J:143394 )

• mice display focal dilation of papillary collecting ducts unlike in wild-type mice

increased glomerular capsule space ( J:143394 )

• at 2 months of age, mice exhibit expansion of Bowman's space

dilated renal tubule ( J:143124 , J:143394 )

• mice exhibit massive, fusiform, dilated renal tubules unlike in wild-type mice (J:143124)

• at 1 month, mice exhibit mild to severe tubular dilation with flattening of tubular epithelial cells unlike in wild-type mice (J:143394)

• at 2 months, the severity of tubular dilation is increased (J:143394)

• at 4 months, tubular dilation encompassed 80% of the cortical medulla (J:143394)

dilated proximal convoluted tubule ( J:143394 )

• mice exhibit patchy dilation of the proximal tubule

renal fibrosis ( J:143394 )

liver/biliary system

abnormal liver morphology ( J:143124 )

• mice exhibit dilated renal hepatic central veins with a patchy, periportal, lymphocytic infiltrate unlike in wild-type mice

hepatic necrosis ( J:143394 )

• mice exhibit areas of hemorrhage and necrosis

liver cyst ( J:143394 )

• mice exhibit liver cysts accompanied by fibrosis and necrosis with varying severity and age of onset

liver fibrosis ( J:143394 )

endocrine/exocrine glands

dilated pancreatic duct ( J:143124 , J:143394 )

• mice exhibit dilated pancreatic ducts unlike in wild-type mice (J:143124)

pancreas cyst ( J:143394 )

nervous system

abnormal brain morphology ( J:143394 )

• mice exhibit brain cysts or dilated ducts

digestive/alimentary system

dilated pancreatic duct ( J:143124 , J:143394 )

• mice exhibit dilated pancreatic ducts unlike in wild-type mice (J:143124)

gastrointestinal ulcer ( J:143394 )

• mice exhibit hemorrhaging and ulcer-like lesions in the gastrointestinal tract

cardiovascular system

decreased glomerular capillary number ( J:143394 )

• at 2 months of age, mice exhibit a reduction of glomerular capillary loop formation compared to in wild-type mice

cellular

abnormal renal tubule epithelial cell primary cilium morphology ( J:143394 )

• in vivo and in culture, renal tubular epithelia have fewer and shorter cilia than on wild-type cells

increased mesangial cell number ( J:143394 )

• at 2 months of age, mice exhibit increased mesangial cellularity

hepatic necrosis ( J:143394 )

• mice exhibit areas of hemorrhage and necrosis

renal necrosis ( J:143394 )

growth/size/body

pancreas cyst ( J:143394 )

kidney cyst ( J:143394 )

• mice exhibit kidney cysts accompanied by fibrosis and necrosis

• severity of cysts and age of onset varies

liver cyst ( J:143394 )

• mice exhibit liver cysts accompanied by fibrosis and necrosis with varying severity and age of onset

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive polycystic kidney disease		DOID:0110861	OMIM:263200	J:143394

Genotype
MGI:3826787

cx3

• Allelic Composition: Pkd2^tm2Som/Pkd2⁺; Pkhd1^tm1Gwu/Pkhd1^tm1Gwu
• Genetic Background: involves: 129/Sv * C57BL/6J * SJL

renal/urinary system

kidney cyst ( J:143394 )

• at 1 month of age, mice have more sphere-shaped cysts than in Pkdh1^tm1Gwu homozygotes

dilated renal tubule ( J:143394 )

growth/size/body

kidney cyst ( J:143394 )

• at 1 month of age, mice have more sphere-shaped cysts than in Pkdh1^tm1Gwu homozygotes