Mouse Genome Informatics
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
• death occurring after E12.5

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

• randomization of embryonic turning
• multiple laterality defects

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

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

hematopoietic system
• the spleen was absent or severely reduced in size

• progressive whole-body edema developed after E13.5

immune system
• the spleen was absent or severely reduced in size

liver/biliary system
• frequently showed abnormal lobation and/or midline positioning

renal/urinary system
• first apparent around E15
• predominantly glomerular cysts

respiratory system
• 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
Polycystic Kidney Disease 2; PKD2 613095 J:77401