Analysis Tools
mortality/aging
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• homozygous mice have high mortality
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pigmentation
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• grayish black pigment dilution
• looks like Lystbg
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reproductive system
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• homozygous mice do not breed well
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hematopoietic system
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• megakaryocytes are more plentiful but have abnormal intracellular membranes, increased invasions by white cells and decreased platelet synthesis
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• platelet alpha granules show significant reductions in fibrinogen, platelet factor 4, and von Willebrand factor (vWF)
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• platelet counts are ~50% of those in heterozygous controls
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• number of dense granules per platelet is reduced to ~50% of control values, as detected by whole mount electron microscopy
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• serotonin concentration is reduced to less than 50% of control values
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• 30% increase in mean platelet volume
• platelet size difference is maintained from 4 weeks to 6 months of age
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• reduced target cell lysis but normal secretion of granule contents hexosaminidase and granzyme A
• in the synapse between cytotoxic T cell and target cell the granules are incompletely polarized
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homeostasis/metabolism
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• serotonin concentration is reduced to less than 50% of control values
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• plasma von Willebrand factor (vWF) levels are increased concomitant with the platelet vWF reduction
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• prolonged bleeding time
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immune system
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• reduced target cell lysis but normal secretion of granule contents hexosaminidase and granzyme A
• in the synapse between cytotoxic T cell and target cell the granules are incompletely polarized
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integument
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• grayish black pigment dilution
• looks like Lystbg
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cellular
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• megakaryocytes are more plentiful but have abnormal intracellular membranes, increased invasions by white cells and decreased platelet synthesis
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Hermansky-Pudlak syndrome | DOID:3753 |
OMIM:PS203300 |
J:12434 , J:13419 | |
