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Phenotypes Associated with This Genotype
Genotype
MGI:5502373
Allelic
Composition
Pkd1tm2Ggg/Pkd1tm2Ggg
Tg(Col1a1-cre)1Bek/0
Genetic
Background
involves: 129S4/SvJae * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1tm2Ggg mutation (1 available); any Pkd1 mutation (99 available)
Tg(Col1a1-cre)1Bek mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Pkd1tm2Ggg/Pkd1tm2Ggg Tg(Col1a1-cre)1Bek/0 mice develop polycystic pancreas and kidney

mortality/aging
• 50% mortality rate between birth and 6 months of age
• 50% mortality rate between birth and 6 months of age

growth/size/body
• at 6 weeks of age

renal/urinary system
• renal tubule cysts first become apparent at E15.5 and severe multiple cysts in the kidney are seen by 6 weeks of age
• however, glomeruli formation in the kidney is unaffected
• renal fibrosis of polycystic kidney starts at P7 and progressively becomes more severe by 6 weeks of age

endocrine/exocrine glands
• formation of pancreatic cysts lead to expansion of the pancreatic ducts and leads to massive acinar cell loss, formation of abnormal tubular structures, and appearance of endocrine cells in ducts
• pancreatic cysts first become apparent at E15.5 and severe multiple cysts are seen by 6 weeks of age
• however, endocrine islet formation in pancreas is unaffected

skeleton
• osteoblasts show impaired differentiation and maturation, as shown by culture duration-dependent reductions in ALP activity, diminished calcium deposition in extracellular matrix and a reduction in osteoblastic differentiation markers
• primary calvarial osteoblasts exhibit an increase in BrdU incorporation
• 17% shorter in length
• number of adipocytes and fat droplets in tibia bone marrow are increased in 6 week old mutants
• adults exhibit severe osteopenia, with bone mineral density reduced by 35% and 36% in adult males and females, respectively
• however, newborns do not have skeletal abnormalities
• 73% reduction in trabecular bone volume
• 41% reduction in cortical bone thickness
• periosteal mineral apposition rate is reduced by 41%

adipose tissue
• increase in adipogenesis in bone marrow and in bone marrow stromal cultures; higher number of adipocytes and volume of fat droplets in tibias

digestive/alimentary system
• formation of pancreatic cysts lead to expansion of the pancreatic ducts and leads to massive acinar cell loss, formation of abnormal tubular structures, and appearance of endocrine cells in ducts

cellular
• osteoblasts show impaired differentiation and maturation, as shown by culture duration-dependent reductions in ALP activity, diminished calcium deposition in extracellular matrix and a reduction in osteoblastic differentiation markers
• primary calvarial osteoblasts exhibit an increase in BrdU incorporation

homeostasis/metabolism
• levels of serum phosphorus are lower at 6 weeks of age

limbs/digits/tail
• 17% shorter in length

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
polycystic kidney disease 1 DOID:0110858 OMIM:173900
J:191967


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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last database update
08/13/2019
MGI 6.14
The Jackson Laboratory