Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci

摘要: Seven mouse pigment mutants, which have alterations at distinct genes, are known to a defect in kidney lysosomal enzyme secretion. Two of these, beige and pale ear, bleeding abnormality associated with deficiency the number platelet dense granules. In present study, five other mutants defective secretion-- pearl, pallid, light maroon, ruby-eye--were likewise found abnormally prolonged times after experimental injury. Platelet counts were similar those normal mice, but granule components serotonin, adenosine triphosphate (ATP), diphosphate (ADP) morphologically identifiable granules markedly reduced these mutants. The capacity accumulate exogenous 3H-serotonin platelets was 2–3-fold. Thrombin-stimulated secretion slightly decreased all However, seven could be subdivided into three groups based on degree enzymes thrombin stimulation. Thus, symptoms consistent storage pool may serve as useful animal models for specific types human disease. Also, results emphasize genetic, morphological, functional interrelatedness organelles: melanosomes, lysosomes,