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].

References