Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue

@article{Zeitlin1995IncreasedAA,
  title={Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue},
  author={Scott Zeitlin and J Liu and Deborah L. Chapman and Virginia E Papaioannou and A. Efstratiadis},
  journal={Nature Genetics},
  year={1995},
  volume={11},
  pages={155-163}
}
The expansion of GAG triplet repeats in the translated region of the human HD gene, encoding a protein (huntingtin) of unknown function, is a dominant mutation leading to manifestation of Huntington's disease. Targeted disruption of the homologous mouse gene (Hdh), to examine the normal role of huntingtin, shows that this protein is functionally indispensable, since nullizygous embryos become developmentally retarded and disorganized, and die between days 8.5 and 10.5 of gestation. Based on the… CONTINUE READING
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