C9ORF72-ALS/FTD: Transgenic Mice Make a Come-BAC

Neuron. 2016 May 4;90(3):427-31. doi: 10.1016/j.neuron.2016.04.026.


For five years, since the landmark discovery of the C9ORF72 hexanucleotide repeat expansion in ALS/FTD, a transgenic mouse model has remained elusive. Now, two laboratories (Liu et al., 2016; Jiang et al., 2016) report the development of BAC transgenic mice that recapitulate features of the human disease.

Publication types

  • Review
  • Comment

MeSH terms

  • Amyotrophic Lateral Sclerosis / genetics*
  • Animals
  • C9orf72 Protein
  • DNA Repeat Expansion / genetics*
  • Disease Models, Animal
  • Frontotemporal Dementia / genetics*
  • Guanine Nucleotide Exchange Factors / genetics*
  • Humans


  • C9orf72 Protein
  • C9orf72 protein, mouse
  • Guanine Nucleotide Exchange Factors