mortality/aging
• only 7% of homozygotes (versus expected 25%) are found at E18.5 but none survive to birth (P0)
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• only 8%, 3%, 3%, and 4% of homozygotes (versus expected 25%) are found at E14.5, E15.5, E16.5, and E17.5, respectively
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• ~60% of homozygotes die between E9.5 and E11.5 with signs of yolk sac hemorrhage
• the remaining ~40% survive beyond E10.5 with normal development of the heart, vasculature, and hepatic hematopoiesis but die prior to birth with large hemorrhages in the CNS and tail
• only 11% of homozygotes (versus expected 25%) are found at E13.5
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embryo
• at E9.5-E11.5, mutant embryos displaying yolk sac hemorrhage (~60%) are growth retarded
• homozygotes that survive beyond E11.5 are strikingly growth retarded
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• ~60% of mutant embryos display signs of yolk sac hemorrhage between E9.5 and E11.5
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• at E9.5-E11.5, mutant embryos displaying yolk sac hemorrhage (~60%) exhibit a paucity of blood in vitelline vessels
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cardiovascular system
• at E9.5-E11.5, mutant embryos with yolk sac hemorrhage occasionally display pericardial effusions
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hemorrhage
(
J:51137
)
• homozygotes that survive beyond E11.5 exhibit large hemorrhages in the CNS and tail, evident at later gestation stages
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• homozygotes that survive beyond E11.5 exhibit intercranial hemorrhages
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• homozygotes that survive beyond E11.5 exhibit hemorrhages in the central canal of the spinal cord
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limbs/digits/tail
short tail
(
J:51137
)
• homozygotes that survive beyond E11.5 frequently have short tails
|
kinked tail
(
J:51137
)
• homozygotes that survive beyond E11.5 may display kinked tails
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growth/size/body
• at E9.5-E11.5, mutant embryos displaying yolk sac hemorrhage (~60%) are growth retarded
• homozygotes that survive beyond E11.5 are strikingly growth retarded
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homeostasis/metabolism
• at E9.5-E11.5, mutant embryos with yolk sac hemorrhage occasionally display pericardial effusions
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• an unregulated tissue factor-FVIIa action and a consequent consumptive coagulopathy appear to underlie the bleeding diathesis in older (>E12.5) mutant embryos
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• homozygotes that progress beyond E12.5 display rare intravascular thrombi
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• homozygotes that progress beyond E12.5 exhibit deposition of immunoreactive fibrin(ogen) within the hepatic interstitia
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craniofacial
• at E18.5, surviving homozygotes may display a sunken cranial fontanelle associated with an intracranial hemorrhage and degeneration of brain tissue
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skeleton
• at E18.5, surviving homozygotes may display a sunken cranial fontanelle associated with an intracranial hemorrhage and degeneration of brain tissue
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nervous system
• homozygotes that survive beyond E11.5 exhibit intercranial hemorrhages
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• homozygotes that survive beyond E11.5 exhibit hemorrhages in the central canal of the spinal cord
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immune system
• homozygotes that progress beyond E12.5 exhibit deposition of immunoreactive fibrin(ogen) within the hepatic interstitia
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integument
• at E9.5-E11.5, mutant embryos displaying yolk sac hemorrhage (~60%) are visibly pale
• homozygotes that survive beyond E11.5 are strikingly pale
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