Article
Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue.
Nature genetics - 1 Oct 1995
Zeitlin S, Liu J P, Chapman D L, Papaioannou V E, Efstratiadis A
Abstract excerpt
The expansion of CAG 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...
Topics
- Animals
- Apoptosis
- Base Sequence
- Blastocyst
- Chimera
- DNA Primers
- Embryo, Mammalian
- Fetal Death
- Genes, Dominant
- Genes, Lethal
- Genotype
- HeLa Cells