| First Author | Peters LL | Year | 1993 |
| Journal | Cell | Volume | 74 |
| Issue | 1 | Pages | 135-42 |
| PubMed ID | 8334700 | Mgi Jnum | J:14198 |
| Mgi Id | MGI:62372 | Doi | 10.1016/0092-8674(93)90301-6 |
| Citation | Peters LL, et al. (1993) Novel inheritance of the murine severe combined anemia and thrombocytopenia (Scat) phenotype [see comments]. Cell 74(1):135-42 |
| abstractText | 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. |
