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Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes.

Cell | Jun 2, 1995

Huntington's disease (HD) is an incurable neuropsychiatric disease associated with CAG repeat expansion within a widely expressed gene that causes selective neuronal death. To understand its normal function, we have created a targeted disruption in exon 5 of Hdh (Hdhex5), the murine homolog of the HD gene. Homozygotes die before embryonic day 8.5, initiate gastrulation, but do not proceed to the formation of somites or to organogenesis. Mice heterozygous for the Hdhex5 mutation display increased motor activity and cognitive deficits. Neuropathological assessment of two heterozygous mice shows significant neuronal loss in the subthalamic nucleus. These studies show that the HD gene is essential for postimplantation development and that it may play an important role in normal functioning of the basal ganglia.

Pubmed ID: 7774020 RIS Download

Mesh terms: Animals | Base Sequence | Behavior, Animal | Brain | Chimera | Discrimination Learning | Embryo, Mammalian | Female | Genes, Lethal | Heterozygote | Huntington Disease | Male | Memory, Short-Term | Mice | Mice, Inbred C57BL | Molecular Sequence Data | Motor Activity | Mutagenesis | Mutation | Nerve Tissue Proteins | Nuclear Proteins | Polymerase Chain Reaction | Recombination, Genetic | Selection, Genetic | Sequence Deletion | Spatial Behavior

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Mouse Genome Informatics (Data, Gene Annotation)

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