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Phenotypes Associated with This Genotype
Genotype
MGI:3531216
Allelic
Composition
Pkd1tm1Jzh/Pkd1+
Genetic
Background
either: (involves: 129S4/SvJae * C57BL/6) or (involves: 129S4/SvJae * BALB/c)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1tm1Jzh mutation (0 available); any Pkd1 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
digestive/alimentary system
• at >20 months, heterozygotes show multiple cystic structures lined by cuboidal cyst epithelium (J:72627)
• at >20 months, heterozygotes show multiple cystic structures lined by cuboidal cyst epithelium (J:72627)
• at >20 months, few acini are present; in areas of pancreatic lipomatosis, acini appear atrophic, isolated, and surrounded by mature adipocytes (J:72627)
• at >20 months, few acini are present; in areas of pancreatic lipomatosis, acini appear atrophic, isolated, and surrounded by mature adipocytes (J:72627)
• at >20 months, heterozygotes show dilatation of pancreatic ducts (J:72627)
• at >20 months, heterozygotes show dilatation of pancreatic ducts (J:72627)
• acini appear atrophic in areas of pancreatic lipomatosis (J:72627)
• acini appear atrophic in areas of pancreatic lipomatosis (J:72627)

endocrine/exocrine glands
• at >20 months, heterozygotes show multiple cystic structures lined by cuboidal cyst epithelium (J:72627)
• at >20 months, heterozygotes show multiple cystic structures lined by cuboidal cyst epithelium (J:72627)
• at >20 months, few acini are present; in areas of pancreatic lipomatosis, acini appear atrophic, isolated, and surrounded by mature adipocytes (J:72627)
• at >20 months, few acini are present; in areas of pancreatic lipomatosis, acini appear atrophic, isolated, and surrounded by mature adipocytes (J:72627)
• at >20 months, heterozygotes show dilatation of pancreatic ducts (J:72627)
• at >20 months, heterozygotes show dilatation of pancreatic ducts (J:72627)
• acini appear atrophic in areas of pancreatic lipomatosis (J:72627)
• acini appear atrophic in areas of pancreatic lipomatosis (J:72627)
• heterozygotes exhibit ductal plate malformation with occasional biliary microhamartomas (J:52573)
• heterozygotes exhibit ductal plate malformation with occasional biliary microhamartomas (J:52573)
• at >20 months, few islets are present (J:72627)
• at >20 months, few islets are present (J:72627)
• at >20 months, 10% of heterozygotes display macroscopic pancreatic cysts; no cysts are observed at 9-20 months (J:72627)
• some cysts with small lumens also contain cuboidal epithelium, with a large portion of eosinophilic cytoplasm suggesting an acinar origin (J:72627)
• at >20 months, 10% of heterozygotes display macroscopic pancreatic cysts; no cysts are observed at 9-20 months (J:72627)
• some cysts with small lumens also contain cuboidal epithelium, with a large portion of eosinophilic cytoplasm suggesting an acinar origin (J:72627)
• at >20 months, pancreatic cystic lesions are surrounded by interstitial fibrosis (J:72627)
• at >20 months, pancreatic cystic lesions are surrounded by interstitial fibrosis (J:72627)
• at >20 months, the pancreas is massively replaced by adipose tissue (J:72627)
• at >20 months, the pancreas is massively replaced by adipose tissue (J:72627)

homeostasis/metabolism
N
• after 16 months, 7out of 8 heterozygotes exhibit normal serum creatinine levels (normal renal excretory function) relative to wild-type (J:52573)
• after 16 months, 7out of 8 heterozygotes exhibit normal serum creatinine levels (normal renal excretory function) relative to wild-type (J:52573)
• after 16 months, only 1 out of 8 heterozygotes exhibits severe disease and abnormal serum creatinine levels, indicating compromised renal excretory function (J:52573)
• after 16 months, only 1 out of 8 heterozygotes exhibits severe disease and abnormal serum creatinine levels, indicating compromised renal excretory function (J:52573)

immune system
• in heterozygotes, impaired liver function correlates with cyst volume and cholangitis; increased cyst volume is due to increased secretion from the cystic epithelia (J:52573)
• in heterozygotes, impaired liver function correlates with cyst volume and cholangitis; increased cyst volume is due to increased secretion from the cystic epithelia (J:52573)
• in heterozygotes, large renal cysts are often surrounded by atrophic parenchyma with inflammation (J:52573)
• in heterozygotes, large renal cysts are often surrounded by atrophic parenchyma with inflammation (J:52573)

liver/biliary system
• heterozygotes exhibit ductal plate malformation with occasional biliary microhamartomas (J:52573)
• heterozygotes exhibit ductal plate malformation with occasional biliary microhamartomas (J:52573)
• in heterozygotes, impaired liver function correlates with cyst volume and cholangitis; increased cyst volume is due to increased secretion from the cystic epithelia (J:52573)
• in heterozygotes, impaired liver function correlates with cyst volume and cholangitis; increased cyst volume is due to increased secretion from the cystic epithelia (J:52573)
• heterozygotes with multiple liver cysts exhibit little residual parenchyma relative to wild-type mice (J:52573)
• heterozygotes with multiple liver cysts exhibit little residual parenchyma relative to wild-type mice (J:52573)
• at 9-14 months of age, 4 out of 15 heterozygotes (27%) display liver cysts; notably, no liver cysts are found in perinatal homozygotes (J:52573)
• after 14 months of age, 7 of 8 (87%) heterozygotes have liver cysts filled with clear or dark-brown fluid (up to 10 ml in volume) occupying one- to two-thirds of the liver (J:52573)
• most liver cysts are lined by cuboidal or squamous biliary-like epithelium positive for cytokeratin 19 (a biliary-specific epithelial marker) and show focal hyperplasia (J:52573)
• at 9-14 months of age, 4 out of 15 heterozygotes (27%) display liver cysts; notably, no liver cysts are found in perinatal homozygotes (J:52573)
• after 14 months of age, 7 of 8 (87%) heterozygotes have liver cysts filled with clear or dark-brown fluid (up to 10 ml in volume) occupying one- to two-thirds of the liver (J:52573)
• most liver cysts are lined by cuboidal or squamous biliary-like epithelium positive for cytokeratin 19 (a biliary-specific epithelial marker) and show focal hyperplasia (J:52573)
• in heterozygotes, cyst number and impaired liver function are associated with a significant rise in ALT, AST and LDH enzyme levels with progressive age (J:52573)
• in heterozygotes, cyst number and impaired liver function are associated with a significant rise in ALT, AST and LDH enzyme levels with progressive age (J:52573)

renal/urinary system
N
• heterozygotes show no differences in kidney anatomy or histology up to 7 months of age; no renal cysts are observed at 220 days (J:43193)
• heterozygotes show no differences in kidney anatomy or histology up to 7 months of age; no renal cysts are observed at 220 days (J:43193)
• in heterozygotes, large renal cysts are often surrounded by atrophic parenchyma with inflammation (J:52573)
• in heterozygotes, large renal cysts are often surrounded by atrophic parenchyma with inflammation (J:52573)
• in heterozygotes, large renal cysts are often surrounded by atrophic parenchyma with interstitial fibrosis (J:52573)
• in heterozygotes, large renal cysts are often surrounded by atrophic parenchyma with interstitial fibrosis (J:52573)
• at 9-14 months of age, heterozygotes with renal cysts show a greater than 5-fold dilatation in tubule diameter relative to wild-type (J:52573)
• at 9-14 months of age, heterozygotes with renal cysts show a greater than 5-fold dilatation in tubule diameter relative to wild-type (J:52573)
• at 9-14 months of age, 12 out of 15 heterozygotes (80%) display 1-7 renal cysts per mouse; 5 of these mutants show bilateral cysts (J:52573)
• after 16 months, 100% of heterozygotes have renal cysts (2-50 per mouse); 6 of 8 heterozygotes show bilateral cysts (J:52573)
• most cysts fail to stain with lotus tetragonolobus lectin, a proximal tubule marker, and dolichos biflorus agglutinin, a collecting tubule marker; in contrast, glomerular cysts are common (J:52573)
• notably, some cysts show loss of polycystin-1 expression; in addition, EGFR is improperly localized to apical membranes in cysts and some slightly dilated tubules (J:52573)
• in heterozygotes, large cysts contain epithelia that range from columnar to cuboidal to squamous (J:52573)
• at 9-14 months of age, 12 out of 15 heterozygotes (80%) display 1-7 renal cysts per mouse; 5 of these mutants show bilateral cysts (J:52573)
• after 16 months, 100% of heterozygotes have renal cysts (2-50 per mouse); 6 of 8 heterozygotes show bilateral cysts (J:52573)
• most cysts fail to stain with lotus tetragonolobus lectin, a proximal tubule marker, and dolichos biflorus agglutinin, a collecting tubule marker; in contrast, glomerular cysts are common (J:52573)
• notably, some cysts show loss of polycystin-1 expression; in addition, EGFR is improperly localized to apical membranes in cysts and some slightly dilated tubules (J:52573)
• in heterozygotes, large cysts contain epithelia that range from columnar to cuboidal to squamous (J:52573)

Mouse Models of Human Disease
OMIM ID Ref(s)
Polycystic Kidney Disease 1; PKD1 173900 J:43193 , J:52573 , J:72627


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
02/02/2016
MGI 6.02
The Jackson Laboratory