Analysis Tools
mortality/aging
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• beyond weaning, survival remains compromised with death at various ages and only about 30% survival beyond 6 months
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• frequently die within 24 hours after birth
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• only 60% reach weaning age
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homeostasis/metabolism
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• plasma displays low heparin cofactor activity
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• develop spontaneous life-threatening thrombosis, as early as the day of birth; rarely seen at E18.5
• thormbotic events in adults are most prominent in the heart, liver, and in ocular, placental, and penile vessels
• pentasaccharide does not inhibit thrombus formation as in wild-type when thrombosis is induced
• thrombosis is not seen in other organs nor in the larger vessels like the caval vein, femoral artery and vein, and branchial vein
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• 6 of 16 adults show massive thrombosis in the atria and/or ventricles, often associated with leukocyte infiltration
• 2 of 4 pups at P0 show clots in the heart; in neonates, spontaneous death is associated with major thrombosis in the heart
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• 6 of 16 adults show massive thrombosis in the atria and/or ventricles that is often associated with leukocyte infiltration
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• severe thrombosis in the placenta of pregnant females, irrespective of the embryo genotype
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growth/size/body
cardiovascular system
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• 3 of 14 adults show vessel occlusion in the lungs
• some show ocular vein occlusion
• 50% of sexually active males show occlusion of the dorsal penile vein
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• 12 of 15 adults show signs of portal hypertension, characterized by nodular regenerative hyperplasia, dilatation of the sinusoids and formation of shunt vessels
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liver/biliary system
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• 12 of 15 adults show signs of portal hypertension, characterized by nodular regenerative hyperplasia, dilatation of the sinusoids and formation of shunt vessels
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• presence of neutrophil clusters in the sinusoids and of phagocytosing macrophages in the parenchyme, indicating in inflammatory response in the liver
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• 2 of 4 one-day-old pups show infracted zones in the liver with coagulative necrosis, indicating impaired blood flow in the liver
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• coagulative necrosis in the liver
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• macrovesicular steatosis, the accumulation of fat in vesicles that displace the cytoplasm and distort the nucleus
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• liver shows nodular regenerative hyperplasia
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immune system
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• presence of neutrophil clusters in the sinusoids and of phagocytosing macrophages in the parenchyme, indicating in inflammatory response in the liver
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hematopoietic system
vision/eye
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• 26% of males and 47% of females display severe degeneration of the eyes with blood accumulation in the front part of the eye
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• when eye degeneration is observed, occasional perforation of the cornea is seen
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• when eye degeneration is observed, disruption of the retina is often seen
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• in mutants with eye degeneration, the retinal layer is not seen
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• in mutants with eye degeneration, the pigment epithelium is not seen
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• in mutants with eye degeneration, the sclera is not seen
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• in mutants with eye degeneration, the choroid is not seen
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reproductive system
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• severe thrombosis in the penile veins of sexually active males
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• 50% of all sexually active males develop irreversible priapism due to occlusion of the dorsal penile vein and impaired drainage and thrombosis of the corpora cavernosa
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• most likely due to placental thrombosis
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renal/urinary system
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• severe thrombosis in the penile veins of sexually active males
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pigmentation
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• in mutants with eye degeneration, the pigment epithelium is not seen
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| antithrombin III deficiency | DOID:3755 |
OMIM:613118 |
J:115658 | |
