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Phenotypes Associated with This Genotype
Genotype
MGI:2676553
Allelic
Composition
Pkd2tm1Dwo/Pkd2tm1Dwo
Genetic
Background
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd2tm1Dwo mutation (1 available); any Pkd2 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• death occurring after E12.5 (J:77401)
• death occurring after E12.5 (J:77401)

cardiovascular system
• defects affecting septation, the outflow tract, trabecularization, and the formation of the myocardial wall (J:77401)
• defects affecting septation, the outflow tract, trabecularization, and the formation of the myocardial wall (J:77401)
• focal hemorrhages after E13.5 (J:77401)
• focal hemorrhages after E13.5 (J:77401)

embryogenesis
• randomization of embryonic turning (J:77401)
• randomization of embryonic turning (J:77401)
• multiple laterality defects (J:77401)
• multiple laterality defects (J:77401)

endocrine/exocrine glands
• abnormally positioned on the right side of the abdomen in most embyros (J:77401)
• abnormally positioned on the right side of the abdomen in most embyros (J:77401)
• fluid-filled cysts in both ventral and dosal pancreatic lobes (J:77401)
• fluid-filled cysts in both ventral and dosal pancreatic lobes (J:77401)

growth/size/body
• most embyros exhibited an inversion of abdominal situs with a right sided stomach and pancreas (J:77401)
• most embyros exhibited an inversion of abdominal situs with a right sided stomach and pancreas (J:77401)

hematopoietic system
• the spleen was absent or severely reduced in size (J:77401)
• the spleen was absent or severely reduced in size (J:77401)

homeostasis/metabolism
• progressive whole-body edema developed after E13.5 (J:77401)
• progressive whole-body edema developed after E13.5 (J:77401)

immune system
• the spleen was absent or severely reduced in size (J:77401)
• the spleen was absent or severely reduced in size (J:77401)

liver/biliary system
• frequently showed abnormal lobation and/or midline positioning (J:77401)
• frequently showed abnormal lobation and/or midline positioning (J:77401)

renal/urinary system
• first apparent around E15 (J:77401)
• first apparent around E15 (J:77401)
• predominantly glomerular cysts (J:77401)
• predominantly glomerular cysts (J:77401)

respiratory system
• with 4 lobes on each side in contrast to the asymmetric lobulation observed in wild-type (J:77401)
• 6% showed normal lobulation (J:77401)
• with 4 lobes on each side in contrast to the asymmetric lobulation observed in wild-type (J:77401)
• 6% showed normal lobulation (J:77401)

Mouse Models of Human Disease
OMIM ID Ref(s)
Polycystic Kidney Disease 2; PKD2 613095 J:77401


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
02/02/2016
MGI 6.02
The Jackson Laboratory