Phenotypes Associated with This Genotype

Genotype
MGI:2676553

• Allelic Composition: Pkd2^tm1Dwo/Pkd2^tm1Dwo
• Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:77401 )

• death occurring after E12.5

cardiovascular system

abnormal heart development ( J:77401 )

• defects affecting septation, the outflow tract, trabecularization, and the formation of the myocardial wall

abnormal heart looping ( J:77401 )

hemorrhage ( J:77401 )

• focal hemorrhages after E13.5

embryo

abnormal direction of embryo turning ( J:77401 )

• randomization of embryonic turning

abnormal left-right axis patterning ( J:77401 )

• multiple laterality defects

endocrine/exocrine glands

abnormal pancreas morphology ( J:77401 )

• abnormally positioned on the right side of the abdomen in most embyros

pancreas cyst ( J:77401 )

• fluid-filled cysts in both ventral and dosal pancreatic lobes

growth/size/body

pancreas cyst ( J:77401 )

• fluid-filled cysts in both ventral and dosal pancreatic lobes

kidney cyst ( J:77401 )

• first apparent around E15

kidney cortex cyst ( J:77401 )

• predominantly glomerular cysts

situs ambiguus ( J:77401 )

situs inversus ( J:77401 )

• most embyros exhibited an inversion of abdominal situs with a right sided stomach and pancreas

hematopoietic system

absent spleen ( J:77401 )

• the spleen was absent or severely reduced in size

homeostasis/metabolism

hydrops fetalis ( J:77401 )

• progressive whole-body edema developed after E13.5

immune system

absent spleen ( J:77401 )

• the spleen was absent or severely reduced in size

liver/biliary system

abnormal liver development ( J:77401 )

• frequently showed abnormal lobation and/or midline positioning

renal/urinary system

kidney cyst ( J:77401 )

• first apparent around E15

kidney cortex cyst ( J:77401 )

• predominantly glomerular cysts

respiratory system

abnormal lung development ( J:77401 )

• with 4 lobes on each side in contrast to the asymmetric lobulation observed in wild-type

• 6% showed normal lobulation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease 2		DOID:0110859	OMIM:613095	J:77401