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The maternal DDK syndrome phenotype is determined by modifier genes that are not linked to Om
Authors:Fernando Pardo-Manuel de Villena  Elena de la Casa-Esperón  Andrei Verner  Kenneth Morgan  Carmen Sapienza
Affiliation:(1) Fels Institute for Cancer Research and Molecular Biology, Temple University School of Medicine, Philadelphia, Pennsylvania, 19140, USA, US;(2) Departments of Human Genetics and Medicine, McGill University, Montreal, Quebec H3G 1A4, Canada, CA;(3) Department of Pathology and Laboratory Medicine, Temple University School of Medicine, Philadelphia, Pennsylvania 19140, USA, US
Abstract:The DDK syndrome is a polar, early embryonic lethal phenotype caused by incompatibility between a maternal factor of DDK origin and a paternal gene of non-DDK origin. Both maternal factor and paternal gene have been mapped to the Om locus on mouse Chromosome (Chr) 11. The paternal contribution to the syndrome has been shown to segregate as a single locus. Although the inheritance of the maternal contribution has not been characterized in depth, it as been assumed to segregate as a single locus. We have now characterized the segregation of the DDK fertility phenotype in over 240 females. Our results demonstrate that females require at least one DDK allele at Om to manifest the syndrome. However, the DDK syndrome inter-strain cross-fertility phenotype of heterozygous females is highly variable and spans the gamut from completely infertile to completely fertile. Our results indicate that this phenotypic variability has a genetic basis and that the modifiers of the DDK syndrome segregate independently of Om. Received: 24 November 1998 / Accepted: 19 January 1999
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