mortality/aging
• homozygotes die between E14.5 and E15.5 due to vascular leaks and massive hemorrhage
• no mutant embryos are recovered at E16.5 or later
|
cardiovascular system
• at E13.5, homozygotes display vascular leaks and rupture of angiogenically-derived blood vessels (e.g. brain, skin, and limb buds vessels)
• in contrast, major axial vessels (e.g. aorta) formed by vasculogenesis appear unaffected
|
hemorrhage
(
J:68331
)
• at E12.5-E13.5, 35% of homozygotes exhibit punctate and localized hemorrhages in the head and toes
• by E15.5, homozygotes display extensive, fatal hemorrhages
|
homeostasis/metabolism
• by E15.5, homozygotes exhibit diffuse edema
|
skin edema
(
J:68331
)
• at E12.5, 35% of homozygotes display subcutaneous edema over the body surface
|
renal/urinary system
kidney cyst
(
J:68331
)
• at E14.5, homozygotes display multifocal microscopic dilations of the renal glomerular and tubular structures; however, initial nephrogenesis appears unaffected
• no cysts are observed in the liver at this stage
|
endocrine/exocrine glands
pancreas cyst
(
J:68331
)
• at E14.5, homozygotes exhibit focal dilations of the pancreatic ducts
|
integument
skin edema
(
J:68331
)
• at E12.5, 35% of homozygotes display subcutaneous edema over the body surface
|
growth/size/body
pancreas cyst
(
J:68331
)
• at E14.5, homozygotes exhibit focal dilations of the pancreatic ducts
|
kidney cyst
(
J:68331
)
• at E14.5, homozygotes display multifocal microscopic dilations of the renal glomerular and tubular structures; however, initial nephrogenesis appears unaffected
• no cysts are observed in the liver at this stage
|