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Phenotypes Associated with This Genotype
involves: 129/Sv * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd2tm2Som mutation (0 available); any Pkd2 mutation (45 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• die in utero between E13.5 and parturition, with most undergoing intrauterine demise with autolysis at E16.5

renal/urinary system
• mice exhibit progressive cyst formation beginning at E15.5, with a preponderance of glomerular cysts and fewer tubular cysts
• however, no liver cysts are formed

cardiovascular system
• labyrinth layer has fewer fetal vessels, which form disorganized networks with reduced branching
• atrial septum defects are common at E13.5 or later
• balanced ventricular and atrial septal defects result in an atrioventricular canal defect
• defective formation of the interventricular septum at E13.5 or later
• 50% of E13.5 or later embryos exhibit focal hemorrhages

endocrine/exocrine glands
• progressive cyst formation in pancreatic ducts with preserved acinar structure beginning at E14.5

• total protein levels in the amniotic fluid average 2.8-fold higher than in wild-type
• 50% of E13.5 or later embryos exhibit progressive total body edema
• total amniotic fluid volume averages 3.7-fold higher than in controls

• labyrinth layer has fewer fetal vessels, which form disorganized networks with reduced branching
• at E7.5 asymmetric calcium signals are absent in 3 of 3 homozygotes

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
polycystic kidney disease 2 DOID:0110859 OMIM:613095

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
MGI 6.11
The Jackson Laboratory