Phenotypes Associated with This Genotype

Genotype
MGI:2174705

• Allelic Composition: Pkd2^tm2Som/Pkd2^tm2Som
• Genetic Background: involves: 129/Sv * C57BL/6J * SJL

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:59314 )

• die in utero between E13.5 and parturition, with most undergoing intrauterine demise with autolysis at E16.5

renal/urinary system

kidney cortex cyst ( J:59314 )

• 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

abnormal placental labyrinth vasculature morphology ( J:104483 )

• labyrinth layer has fewer fetal vessels, which form disorganized networks with reduced branching

atrial septal defect ( J:59314 )

• atrial septum defects are common at E13.5 or later

atrioventricular septal defect ( J:59314 )

• balanced ventricular and atrial septal defects result in an atrioventricular canal defect

ventricular septal defect ( J:59314 )

• defective formation of the interventricular septum at E13.5 or later

pericardial effusion ( J:59314 )

hemorrhage ( J:59314 )

• 50% of E13.5 or later embryos exhibit focal hemorrhages

endocrine/exocrine glands

pancreas cyst ( J:59314 )

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

homeostasis/metabolism

pericardial effusion ( J:59314 )

abnormal amniotic fluid composition ( J:104483 )

• total protein levels in the amniotic fluid average 2.8-fold higher than in wild-type

hydrops fetalis ( J:59314 )

• 50% of E13.5 or later embryos exhibit progressive total body edema

polyhydramnios ( J:104483 )

• total amniotic fluid volume averages 3.7-fold higher than in controls

embryo

abnormal placental labyrinth vasculature morphology ( J:104483 )

• labyrinth layer has fewer fetal vessels, which form disorganized networks with reduced branching

abnormal primitive node morphology ( J:107740 )

• at E7.5 asymmetric calcium signals are absent in 3 of 3 homozygotes

growth/size/body

pancreas cyst ( J:59314 )

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

kidney cortex cyst ( J:59314 )

• 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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease 2		DOID:0110859	OMIM:613095	J:59314