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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Pkhd1tm1Sswi
targeted mutation 1, Scott S Williams
MGI:5430994
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Pkhd1tm1Sswi/Pkhd1tm1Sswi B6.Cg-Pkhd1tm1Sswi MGI:5430995
hm2
 		Pkhd1tm1Sswi/Pkhd1tm1Sswi involves: 129S/Sv MGI:5430997


Genotype
MGI:5430995
hm1
Allelic
Composition		 Pkhd1tm1Sswi/Pkhd1tm1Sswi
Genetic
Background		 B6.Cg-Pkhd1tm1Sswi
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkhd1tm1Sswi mutation (0 available); any Pkhd1 mutation (222 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
endocrine/exocrine glands
abnormal extrahepatic bile duct morphology ( J:186064 )
• dilated extrahepatic bile ducts in 2 of 12 mice at 1 year of age
abnormal hepatic duct morphology ( J:186064 )
• ductal plate malformation
dilated bile duct ( J:186064 )
• intrahepatic and extrahepatic
abnormal gallbladder morphology ( J:186064 )
• gallbladder cysts in 2 of 12 mice at 1 year of age

liver/biliary system
abnormal extrahepatic bile duct morphology ( J:186064 )
• dilated extrahepatic bile ducts in 2 of 12 mice at 1 year of age
abnormal hepatic duct morphology ( J:186064 )
• ductal plate malformation
dilated bile duct ( J:186064 )
• intrahepatic and extrahepatic
abnormal gallbladder morphology ( J:186064 )
• gallbladder cysts in 2 of 12 mice at 1 year of age
liver fibrosis ( J:186064 )
• periportal

renal/urinary system
kidney cyst ( J:186064 )
• at 45 days, mice develop cysts in the proximal tubules, collecting ducts and glomeruli that progress during adulthood
• macrocysts are primarily located in the corticomedullary junction
• at 9 months, all mice exhibit severe cystic kidney disease
dilated renal tubule ( J:186064 )
• in the renal cortex and medualla

growth/size/body
pancreas cyst ( J:186064 )
kidney cyst ( J:186064 )
• at 45 days, mice develop cysts in the proximal tubules, collecting ducts and glomeruli that progress during adulthood
• macrocysts are primarily located in the corticomedullary junction
• at 9 months, all mice exhibit severe cystic kidney disease
renal glomerulus cyst ( J:186064 )

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
autosomal recessive polycystic kidney disease DOID:0110861 OMIM:263200
 J:186064




Genotype
MGI:5430997
hm2
Allelic
Composition		 Pkhd1tm1Sswi/Pkhd1tm1Sswi
Genetic
Background		 involves: 129S/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkhd1tm1Sswi mutation (0 available); any Pkhd1 mutation (222 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
renal/urinary system
kidney cyst ( J:186064 )
• authors state that mice exhibit the same renal cystic phenotype as in mice on a C57BL/6 background

growth/size/body
kidney cyst ( J:186064 )
• authors state that mice exhibit the same renal cystic phenotype as in mice on a C57BL/6 background




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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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Send questions and comments to User Support. 		last database update
04/16/2024
MGI 6.23 		The Jackson Laboratory