Mouse Genome Informatics
hm1
     Pkd2tm1Dwo/Pkd2tm1Dwo
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
mortality/aging
complete embryonic lethality during organogenesis ( 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
hemorrhage ( J:77401 )
• focal hemorrhages after E13.5

embryogenesis
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 cysts ( J:77401 )
• fluid-filled cysts in both ventral and dosal pancreatic lobes

growth/size
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 cysts ( J:77401 )
• first apparent around E15
kidney cortex cysts ( 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
 OMIM IDRef(s)
Polycystic Kidney Disease 2; PKD2 613095 J:77401