Phenotypes associated with this allele

• Allele Symbol: Pkhd1^tm1Som
• Allele Name: targeted mutation 1, Stefan Somlo
• Allele ID: MGI:3774015
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pkhd1^tm1Som/Pkhd1^tm1Som	involves: 129S/SvEv	MGI:5430905
hm2	Pkhd1^tm1Som/Pkhd1^tm1Som	involves: 129S/SvEv * C57BL/6	MGI:3776455

Genotype
MGI:5430905

hm1

• Allelic Composition: Pkhd1^tm1Som/Pkhd1^tm1Som
• Genetic Background: involves: 129S/SvEv

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

cellular

cellular phenotype ( J:185863 )

N • low apoptosis rates of the cells of the medullary collecting ducts of the kidney

abnormal mitotic spindle morphology ( J:185863 )

• loss of orientation of cell division to the lumen of the medullary collecting ducts of the kidney

renal/urinary system

renal/urinary system phenotype ( J:185863 )

N • no cyst formation in the kidney

abnormal kidney epithelium morphology ( J:185863 )

• more interrupted pattern of dividing cells than seen in controls

Genotype
MGI:3776455

hm2

• Allelic Composition: Pkhd1^tm1Som/Pkhd1^tm1Som
• Genetic Background: involves: 129S/SvEv * C57BL/6

liver/biliary system

abnormal hepatobiliary system morphology ( J:131370 )

• liver phenotype is similar when allele is made congenic on 129P1/ReJ background

bile duct proliferation ( J:131370 )

• intrahepatic bile duct proliferation is observed at 2 weeks of age

biliary cyst ( J:131370 )

• grossly cystic common bile ducts are observed in 27% of mutants by 9 months of age; percentage of mice displaying this phenotype is age-dependent and is seen in more animals older than 9 months

liver cyst ( J:131370 )

• progressive liver cyst formation is present by 3 months of age

liver fibrosis ( J:131370 )

• periportal fibrosis (portal tract fibrosis) occurs with liver cyst formation in mutants at 3 months

renal/urinary system

renal/urinary system phenotype ( J:131370 )

N • kidneys have normal glomerular and tubular structures up to 12 months of age; renal function assessed by blood urea nitrogen levels is normal

N • kidney phenotype is similar when allele is made congenic on 129P1/ReJ background

digestive/alimentary system

dilated pancreatic duct ( J:131370 )

• most mice display dilatation of pancreatic ducts

• dilated ducts show periductal fibrosis

• pancreas phenotype is similar when allele is made congenic on 129P1/ReJ background

endocrine/exocrine glands

dilated pancreatic duct ( J:131370 )

• most mice display dilatation of pancreatic ducts

• dilated ducts show periductal fibrosis

• pancreas phenotype is similar when allele is made congenic on 129P1/ReJ background

bile duct proliferation ( J:131370 )

• intrahepatic bile duct proliferation is observed at 2 weeks of age

biliary cyst ( J:131370 )

• grossly cystic common bile ducts are observed in 27% of mutants by 9 months of age; percentage of mice displaying this phenotype is age-dependent and is seen in more animals older than 9 months

pancreas cyst ( J:131370 )

• about 10% of mutants develop large pancreatic cysts as early as 1 month of age

pancreas fibrosis ( J:131370 )

hematopoietic system

enlarged spleen ( J:131370 )

• splenomegaly is found in half of animals examined, and is first detected starting at 3 months

immune system

enlarged spleen ( J:131370 )

• splenomegaly is found in half of animals examined, and is first detected starting at 3 months

growth/size/body

biliary cyst ( J:131370 )

• grossly cystic common bile ducts are observed in 27% of mutants by 9 months of age; percentage of mice displaying this phenotype is age-dependent and is seen in more animals older than 9 months

pancreas cyst ( J:131370 )

• about 10% of mutants develop large pancreatic cysts as early as 1 month of age

liver cyst ( J:131370 )

• progressive liver cyst formation is present by 3 months of age

enlarged spleen ( J:131370 )

• splenomegaly is found in half of animals examined, and is first detected starting at 3 months