Review: contribution of transgenic models to understanding human prion disease

Neuropathol Appl Neurobiol. 2010 Dec;36(7):576-97. doi: 10.1111/j.1365-2990.2010.01129.x.


Transgenic mice expressing human prion protein in the absence of endogenous mouse prion protein faithfully replicate human prions. These models reproduce all of the key features of human disease, including long clinically silent incubation periods prior to fatal neurodegeneration with neuropathological phenotypes that mirror human prion strain diversity. Critical contributions to our understanding of human prion disease pathogenesis and aetiology have only been possible through the use of transgenic mice. These models have provided the basis for the conformational selection model of prion transmission barriers and have causally linked bovine spongiform encephalopathy with variant Creutzfeldt-Jakob disease. In the future these models will be essential for evaluating newly identified potentially zoonotic prion strains, for validating effective methods of prion decontamination and for developing effective therapeutic treatments for human prion disease.

Publication types

  • Review

MeSH terms

  • Animals
  • Animals, Genetically Modified / physiology*
  • Cattle
  • Disease Models, Animal
  • Humans
  • Mice
  • Mice, Transgenic
  • Phenotype
  • Prion Diseases / genetics*
  • Prion Diseases / pathology*
  • Prions / classification
  • Prions / genetics
  • Prions / physiology


  • Prions