Dystonia Knock-in Mouse Model


  • Knock-in mouse model for study of L-DOPA responsive dystonia.
  • Useful for other movement disorders like dystonia and Parkinson’s disease.

Technical Summary

Dystonia is a neurological movement disorder characterized by persistent or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. There are multiple forms of dystonia, and dozens of diseases and conditions may include dystonia as a symptom. Emory researchers have developed a mouse model that carries a human dystonia-causing gene, express dystonia, and responds to other treatments known to ameliorate dystonia. The mouse model carries a point mutation shown to cause a recessive L-DOPA responsive dystonia; however, it may be useful for other movement disorders like Parkinson’s disease.

Publication: Rose, S. J. et al. (2015). Brain, 138 (10), 2987-3002.

Patent Information

Tech ID: 17145
Published: 1/21/2018