Neurons lacking huntingtin differentially colonize brain and survive in chimeric mice

J Neurosci. 2001 Oct 1;21(19):7608-19. doi: 10.1523/JNEUROSCI.21-19-07608.2001.

Abstract

To determine whether neurons lacking huntingtin can participate in development and survive in postnatal brain, we used two approaches in an effort to create mice consisting of wild-type cells and cells without huntingtin. In one approach, chimeras were created by aggregating the 4-8 cell embryos from matings of Hdh (+/-) mice with wild-type 4-8 cell embryos. No chimeric offspring that possessed homozygous Hdh (-/-) cells were obtained thereby, although statistical considerations suggest that such chimeras should have been created. By contrast, Hdh (-/-) ES cells injected into blastocysts yielded offspring that were born and in adulthood were found to have Hdh (-/-) neurons throughout brain. The Hdh (-/-) cells were, however, 5-10 times more common in hypothalamus, midbrain, and hindbrain than in telencephalon and thalamus. Chimeric animals tended to be smaller than wild-type littermates, and chimeric mice rich in Hdh (-/-) cells tended to show motor abnormalities. Nonetheless, no brain malformations or pathologies were evident. The apparent failure of aggregation chimeras possessing Hdh (-/-) cells to survive to birth is likely attributable to the previously demonstrated critical role of huntingtin in extraembryonic membranes. That Hdh (-/-) cells in chimeric mice created by blastocyst injection are under-represented in adult telencephalon and thalamus implies a role for huntingtin in the development of these regions, whereas the neurological dysfunction in brains enriched in Hdh (-/-) cells suggests a role for huntingtin in adult brain. Nonetheless, the lengthy survival of Hdh (-/-) cells in adult chimeric mice indicates that individual neurons in many brain regions do not require huntingtin to participate in normal brain development and to survive.

Publication types

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

MeSH terms

  • Animals
  • Behavior, Animal
  • Brain / embryology
  • Brain / metabolism
  • Brain / pathology*
  • Cell Differentiation
  • Cell Movement
  • Cell Survival
  • Chimera / genetics*
  • Genes, Reporter
  • Genotype
  • Huntingtin Protein
  • Huntington Disease / genetics*
  • Hypothalamus / metabolism
  • Hypothalamus / pathology
  • Mesencephalon / metabolism
  • Mesencephalon / pathology
  • Mice
  • Motor Activity / genetics
  • Nerve Tissue Proteins / biosynthesis
  • Nerve Tissue Proteins / deficiency*
  • Nerve Tissue Proteins / genetics
  • Nervous System Diseases / diagnosis
  • Nervous System Diseases / genetics
  • Neurons / metabolism*
  • Neurons / pathology
  • Nuclear Proteins / biosynthesis
  • Nuclear Proteins / deficiency*
  • Nuclear Proteins / genetics
  • Organ Specificity / genetics
  • Rhombencephalon / metabolism
  • Rhombencephalon / pathology
  • Stem Cells
  • Survival Rate
  • Telencephalon / metabolism
  • Telencephalon / pathology
  • Thalamus / metabolism
  • Thalamus / pathology

Substances

  • Htt protein, mouse
  • Huntingtin Protein
  • Nerve Tissue Proteins
  • Nuclear Proteins