Huntington's disease
One of the more common genetic disorders, Huntington's disease is a devastating, degenerative brain disorder for which there is neither treatment nor cure. It slowly diminishes an individual’s ability to walk, think, talk, and reason. More than a quarter of a million Americans either have Huntington’s or are at risk of inheriting it. Huntington's typically begins in mid-life, between the ages of 30 and 45, though onset may occur as early as the age of 2 (Huntington’s Disease Society of America, www.hdsa.org).
View our print-friendly mouse model list (pdf)
JAX® Mice Models
B6CBA-Tg(HDexon1)62Gpb/1J (Stock Number 002810)
Commonly known as the "R6/2" strain, this strain is transgenic for the 5' end of the human Huntington gene carrying (CAG)115-(CAG)150 repeat expansions. The transgene is ubiquitously expressed. The mice exhibit a progressive neurological phenotype that mimics many of the features of Huntington's, including choreiform-like movements, involuntary stereotypic movements, tremor, epileptic seizures, and unusual vocalizations. They urinate frequently and lose weight and muscle bulk through the course of the disease. They develop Neuronal Intranuclear Inclusions (NII) which contain both the huntingtin and ubiquitin proteins. Previously unknown, these NII have subsequently been identified in human Huntington's patients. Symptoms begin to occur when mice are between 9 and 11 weeks old. Note - see the data sheet for legal and licensing information.
Reference
Mangiarini L, Sathasivam K, Seller M, Cozens B, Harper A, Hetherington C, Lawton M, Trottier Y, Lehrach H, Davies SW, Bates GP. 1996. Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell 87:493-506.
JAX® Mice for Huntington's disease research
See a complete list of JAX® Mice for Huntington's disease research
