Novel inheritance of the murine severe combined anemia and thrombocytopenia (Scat) phenotype.
The phenotype of the autosomal recessive mutation scat includes severe intermittent bleeding, depletion of platelets, and circulating anti-platelet antibodies. 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. Surprisingly, the phenotype of the scat/scat pups depends on the genotype of the mother. 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. The results suggest a novel method of maternal-fetal interaction that relies neither on transfer of maternal mitochondria nor on parental imprinting. We conclude that contribution from the maternal wild-type allele is required for expression of the scat phenotype in homozygotes.
Peters
L L
LL
Jackson Laboratory, Bar Harbor, Maine 04609.
Barker
J E
JE
D000740:Anemia / Q000235:genetics*; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D005260:Female; D051379:Mice; D016513:Mice, SCID / Q000235:genetics*; D008969:Molecular Sequence Data; D010053:Ovary / Q000637:transplantation; D010641:Phenotype; D013921:Thrombocytopenia / Q000235:genetics* / Q000276:immunology