Mouse Genome Informatics
hm
    Pkd2tm2Som/Pkd2tm2Som
involves: 129/Sv * C57BL/6J * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• 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

homeostasis/metabolism
• 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

embryogenesis
• 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
OMIM IDRef(s)
Polycystic Kidney Disease 2; PKD2 613095 J:59314