Faculty Research 1990 - 1999

Title

Novel inheritance of the murine severe combined anemia and thrombocytopenia (Scat) phenotype.

Document Type

Article

Publication Date

1993

Keywords

Animal, Base-Sequence, Chromosome-Mapping, Female, Mice, Mice-SCID: ge, Molecular-Sequence-Data, Ovary: tr, Phenotype, SUPPORT-NON-U-S-GOVT, SUPPORT-U-S-GOVT-P-H-S, Thrombocytopenia: ge, im

JAX Source

Cell 1993 Jul 16;74(1):135-42

Grant

DK27726/DK/NIDDK, HL29305/HL/NHLBI, HL49761/HL/NHLBI

Abstract

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.

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