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Related Experiment Videos

Sandy: a new mouse model for platelet storage pool deficiency.

R T Swank1, H O Sweet, M T Davisson

  • 1Roswell Park Cancer Institute, Molecular and Cellular Biology Department, Buffalo, NY 14263.

Genetical Research
|August 1, 1991
PubMed
Summary
This summary is machine-generated.

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The sandy mouse mutant exhibits diluted pigmentation and prolonged bleeding times due to a severe platelet dense granule defect. This genetic mutation may serve as a model for Hermansky-Pudlak syndrome.

Area of Science:

  • Genetics
  • Hematology
  • Cell Biology

Background:

  • The sandy (sdy) mouse mutant displays diluted coat and eye pigmentation.
  • It is caused by an autosomal recessive mutation on mouse Chromosome 13.
  • This mutation is distinct from previously identified mouse pigment mutations with storage pool deficiency (SPD).

Purpose of the Study:

  • To characterize the genetic and hematological features of the sandy mouse mutant.
  • To investigate the underlying cause of diluted pigmentation and prolonged bleeding times.
  • To evaluate the sandy mutant as a potential model for human disorders.

Main Methods:

  • Genetic linkage analysis to map the mutation.
  • Hematological assays to assess platelet function.

Related Experiment Videos

  • Electron microscopy to examine platelet dense granules.
  • Biochemical analysis of platelet serotonin and lysosomal enzymes.

    • Main Results:

    • Sandy mice have diluted pigmentation, prolonged bleeding times, and extremely low platelet serotonin.
    • Platelet dense granules are severely reduced in number.
    • Lysosomal enzyme secretion is depressed, and ceroid pigment is present in the kidney.
    • Sandy platelets show reduced aggregation response to collagen.

    Conclusions:

    • The sandy mutation causes a severe defect in platelet dense granules, affecting pigmentation and hemostasis.
    • Sandy mice represent a valuable model for studying storage pool deficiency and Hermansky-Pudlak syndrome.
    • This mutant is the tenth identified mouse model with defects in melanosomes, lysosomes, and/or platelet dense granules.