Analysis Tools
growth/size/body
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• mild splenomegaly is seen in 6-week old mutants but does not develop further
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hematopoietic system
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• mild splenomegaly is seen in 6-week old mutants but does not develop further
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• mature bone marrow megakaryocytes lack alpha-granules and show increased number of vacuoles and mitochondria
• fetal liver cell- and bone marrow-derived megakaryocytes either lack Von Willebrand factor (VWF) or show accumulation of the protein in distinct cytoplasmic areas between the nucleus and the plasma membrane and show irregular deposition of actin
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• 2-fold increase in the number of splenic megakaryocytes and a minor increase in the number of bone marrow megakaryocytes in both young and 6-month old mutants
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• platelets show an increased number of vacuoles, which appear empty, with no electron-dense material inside
• platelets contain only 11% of the wild-type level of Von Willebrand factor (VWF)
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• absence of alpha-granules in platelets; in rare cases alpha-granule remnants are seen
• however delta-granules are not affected
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• moderate macrothrombocytopenia, with platelet size increased by about 14% and count reduced by about 40%
• however, basic blood parameters and immune cell populations are unaltered
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• platelets show reduced degranulation-dependent P-selectin exposure compared to wild-type platelets in response to tested agonists
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• platelets show reduced aggregation upon stimulation with collagen, collagen-related peptide, or PAR-4 peptide
• platelets exhibit defective adhesion and aggregate formation under flow over collagen, indicating impaired thrombi formation; the surface area covered by platelets and the total thrombus volume are reduced by about 85% and 88%, respectively
• the procoagulant index is reduced by 2 orders of magnitude in platelets
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• mature bone marrow megakaryocytes show presence of leukocytes inside the cytoplasm, indicating emperipolesis
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homeostasis/metabolism
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• platelets show reduced degranulation-dependent P-selectin exposure compared to wild-type platelets in response to tested agonists
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• platelets show reduced aggregation upon stimulation with collagen, collagen-related peptide, or PAR-4 peptide
• platelets exhibit defective adhesion and aggregate formation under flow over collagen, indicating impaired thrombi formation; the surface area covered by platelets and the total thrombus volume are reduced by about 85% and 88%, respectively
• the procoagulant index is reduced by 2 orders of magnitude in platelets
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• following ferric chloride-induced mesenteric arteriole injury, mutants show an unchanged onset of thrombus formation, however the rapid progression to full occlusive thrombus formation is impaired due to the formation of unstable platelet aggregates which disintegrate rapidly
• following abdominal aorta injury, 7 of 8 mutants do not show occlusive thrombus formation during a 30 minute observation
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• mutants exhibit increased tail bleeding times, with no mutants stopping bleeding within the time frame that wild-type mice stop
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• mutants show impaired occlusive thrombus formation following ferric chloride-induced mesenteric arteriole injury or abdominal aorta injury
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• mutants are protected from thrombo-inflammatory brain infarction following focal cerebral ischemia, showing reduced infract size
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• mutants exhibit impaired dermal healing following skin wounding, showing a reduced area of underlying granulation tissue compared to control wounds, less developed collagenous tissue, and fewer myofibroblasts in the wound area
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nervous system
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• mutants are protected from thrombo-inflammatory brain infarction following focal cerebral ischemia, showing reduced infract size
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immune system
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• mild splenomegaly is seen in 6-week old mutants but does not develop further
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cellular
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• myofibroblast differentiation is impaired during wound repair
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| gray platelet syndrome | DOID:0111044 |
OMIM:139090 |
J:201413 | |
