The maternal DDK syndrome phenotype is determined by modifier genes that are not linked to Om

Mamm Genome. 1999 May;10(5):492-7. doi: 10.1007/s003359901029.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Female
  • Fertility / genetics
  • Fetal Death / genetics*
  • Genes, Lethal*
  • Genetic Linkage*
  • Genomic Imprinting*
  • Heterozygote
  • Litter Size / genetics
  • Mice
  • Mice, Inbred C57BL
  • Phenotype