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Gene Review

scat  -  severe combined anemia and thrombocytopenia

Mus musculus

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Disease relevance of scat

  • A new autosomal recessive mouse mutation, scat (severe combined anemia and thrombocytopenia), causes intermittent episodes of severe bleeding in the homozygote [1].
  • Exploitation of the features common to both scat/scat mice and patients with some forms of autoimmune thrombocytopenic purpura will undoubtedly prove useful in defining common pathways of disease development and in testing potential therapeutic measures [1].

High impact information on scat

  • We conclude that contribution from the maternal wild-type allele is required for expression of the scat phenotype in homozygotes [2].
  • Surprisingly, the phenotype of the scat/scat pups depends on the genotype of the mother [2].
  • In this study, we have mapped the scat mutation to mouse chromosome 8 and shown that the immune component is a secondary consequence of the gene defect [2].
  • Maternal homozygosity prevents disease transmission; crosses between scat homozygotes produce few affected young, while the expected frequency is generated from normal (+/+) mice bearing scat/scat ovaries [2].
  • This pattern of selection is remarkably similar to that observed for the maternal effect selfish genes, Medea in flour beetles and scat in the mouse, and the Gp-9 gene in the fire ant [3].

Biological context of scat

  • The phenotype of the autosomal recessive mutation scat includes severe intermittent bleeding, depletion of platelets, and circulating anti-platelet antibodies [2].


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