EurekaMag.com logo
+ Site Statistics
References:
53,214,146
Abstracts:
29,074,682
+ Search Articles
+ Subscribe to Site Feeds
EurekaMag Most Shared ContentMost Shared
EurekaMag PDF Full Text ContentPDF Full Text
+ PDF Full Text
Request PDF Full TextRequest PDF Full Text
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter
Follow on Google+Follow on Google+
Follow on LinkedInFollow on LinkedIn

+ Translate

Platelet storage pool deficiency in mouse pigment mutations associated with 7 distinct genetic loci



Platelet storage pool deficiency in mouse pigment mutations associated with 7 distinct genetic loci



Blood 63(3): 536-544



Seven mouse pigment mutants, which have alterations at distinct genes, are known to have a defect in kidney lysosomal enzyme secretion. Two of these, beige and pale ear, have a bleeding abnormality associated with a deficiency in the number of platelet dense granules. Five other mutants with defective lysosomal enzyme secretion (pearl, pallid, light ear, maroon and ruby-eye) were likewise found to have abnormally prolonged bleeding times after experimental injury. Platelet counts were similar to those of normal mice, but the platelet dense granule components serotonin, ATP and ADP, and morphologically identifiable dense granules were markedly reduced in these mutants. The capacity to accumulate exogenous 3H-serotonin in platelets was reduced 2- to 3-fold. Thrombin-stimulated secretion of 3H-serotonin was slightly decreased in all mutants. The 7 mutants could be subdivided into 3 groups based on the degree of secretion of lysosomal enzymes after thrombin stimulation. All 7 mouse pigment mutants have symptoms consistent with platelet storage pool deficiency and may serve as useful animal models for specific types of human platelet storage pool disease. The results emphasize the genetic, morphological and functional interrelatedness of 3 organelles: melanosomes, lysosomes and platelet dense granules.

(PDF 0-2 workdays service: $29.90)

Accession: 006135119

Download citation: RISBibTeXText



Related references

Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci. Blood 63(3): 536-544, 1984

Mouse pigment mutants with lysosome dys function have platelet storage pool deficiency. Federation Proceedings 41(3): ABSTRACT 2115, 1982

The mouse pale ear pigment mutant as a possible animal model for human platelet storage pool deficiency. Blood 57(1): 38-43, 1981

Platelet storage pool deficiency associated with inherited abnormalities of the inner ear in the mouse pigment mutants muted and mocha. Blood 78(8): 2036-2044, 1991

The gene encoding protein 4.2 is distinct from the mouse platelet storage pool deficiency mutation pallid. Genomics 42(3): 532-535, 1997

Genetic mapping distinguishes the gene encoding protein 42 from the mouse platelet storage pool deficiency mutation pallid. Molecular Biology of the Cell 7(SUPPL ): 550A, 1996

Sandy: a new mouse model for platelet storage pool deficiency. Genetical Research 58(1): 51-62, 1991

Cocoa a new mouse model for platelet storage pool deficiency. British Journal of Haematology 69(3): 371-378, 1988

Positional cloning of gunmetal, a mouse model for platelet storage pool deficiency. Journal of Investigative Medicine 45(1): 59A, 1997

Inherited prolonged bleeding time and platelet storage pool deficiency in the subtle gray (sut) mouse. Laboratory Animal Science 46(1): 56-60, 1996

Molecular markers near two mouse chromosome 13 genes, muted and pearl, which cause platelet storage pool deficiency (SPD). Mammalian Genome 6(1): 19-24, 1995

Fawn hooded rats the genetic relationship between the coat color and platelet storage pool deficiency. Federation Proceedings 42(5): ABSTRACT 5910, 1983

Mutations in an adaptor-complex subunit explain the mouse mutant mocha Implications for platelet storage pool deficiencies. American Journal of Human Genetics 61(4 SUPPL ): A336, 1997

Evidence that the mouse platelet storage pool deficiency mutation mocha is a defect in a new member of the ankyrin gene family, ANK-3. Blood 82(10 SUPPL 1): 340A, 1993