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Sandy: a new mouse model for platelet storage pool deficiency

Published online by Cambridge University Press:  14 April 2009

Richard T. Swank ,
Hope O. Sweet ,
Muriel T. Davisson ,
Madonna Reddington  and
Edward K. Novak
Richard T. Swank
Affiliation:
Roswell Park Cancer Institute, Molecular and Cellular Biology Department, 666 Elm St, Buffalo, NY 14263
Hope O. Sweet
Affiliation:
The Jackson Laboratory, Bar Harbor, Maine 04609
Muriel T. Davisson
Affiliation:
The Jackson Laboratory, Bar Harbor, Maine 04609
Madonna Reddington
Affiliation:
Roswell Park Cancer Institute, Molecular and Cellular Biology Department, 666 Elm St, Buffalo, NY 14263
Edward K. Novak
Affiliation:
Roswell Park Cancer Institute, Molecular and Cellular Biology Department, 666 Elm St, Buffalo, NY 14263
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Sandy (sdy) is a mouse mutant with diluted pigmentation which recently arose in the DBA/2J strain. Genetic tests indicate it is caused by an autosomal recessive mutation on mouse Chromosome 13 near the cr and Xt genetic loci. This mutation is different genetically and hematologically from previously described mouse pigment mutations with storage pool deficiency (SPD). The sandy mutant has diluted pigmentation in both eyes and fur, is fully viable and has prolonged bleeding times. Platelet serotonin levels are extremely low although ATP dependent acidification activity of platelet organelles appears normal. Also, platelet dense granules are extremely reduced in number when analysed by electron microscopy of unfixed platelets. Platelets have abnormal uptake and flashing of the fluorescent dye mepacrine. Secretion of lysosomal enzymes from kidney and from thrombin-stimulated platelets is depressed 2- and 3-fold, and ceroid pigment is present in kidney. Sandy platelets have a reduced rate of aggregation induced by collagen. The sandy mutant has an unusually severe dense granule defect and thus may be an appropriate model for cases of human Hermansky-Pudlak syndrome with similarly extreme types of SPD. It represents the tenth example of a mouse mutant with simultaneous defects in melanosomes, lysosomes and/or platelet dense granules.

Type
Research Article
Information
Genetics Research , Volume 58 , Issue 1 , August 1991 , pp. 51 - 62
Copyright
Copyright © Cambridge University Press 1991

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