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Inactivation of the mouse Huntington's disease gene homolog Hdh.

Huntington's disease (HD) is a dominant neurodegenerative disorder caused by expansion of a CAG repeat in the gene encoding huntingtin, a protein of unknown function. To distinguish between "loss of function" and "gain of function" models of HD, the murine HD homolog Hdh was inactivated by gene targeting. Mice heterozygous for Hdh inactivation were phenotypically normal, whereas homozygosity resulted in embryonic death. Homozygotes displayed abnormal gastrulation at embryonic day 7.5 and were resorbing by day 8.5. Thus, huntingtin is critical early in embryonic development, before the emergence of the nervous system. That Hdh inactivation does not mimic adult HD neuropathology suggests that the human disease involves a gain of function.

Pubmed ID: 7618107


  • Duyao MP
  • Auerbach AB
  • Ryan A
  • Persichetti F
  • Barnes GT
  • McNeil SM
  • Ge P
  • Vonsattel JP
  • Gusella JF
  • Joyner AL


Science (New York, N.Y.)

Publication Data

July 21, 1995

Associated Grants

  • Agency: NINDS NIH HHS, Id: NS16367
  • Agency: NINDS NIH HHS, Id: NS32765

Mesh Terms

  • Animals
  • Base Sequence
  • Cell Line
  • Ectoderm
  • Embryonic and Fetal Development
  • Female
  • Gene Targeting
  • Genotype
  • Heterozygote
  • Homozygote
  • Humans
  • Huntington Disease
  • Male
  • Mesoderm
  • Mice
  • Mice, Inbred C57BL
  • Molecular Sequence Data
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • Phenotype
  • Stem Cells