Area
Nervous SystemIndication
Huntington´s DiseaseSystem
In vivoModel references
Biol Psychiatry. 2019 Aug 1;86(3):196-207; J Clin Invest. 2014 Oct;124(10):4411-28.
HdhQ111/Q7 knock-in mice model
Applications
- Validation of new pharmacological approaches.
- Identification of molecular mechanisms involved in HD pathology.
- Validation of new genetic therapeutic approaches.
Principal investigators
Silvia Gines, Verónica BritoModel relevance
These mice have a human exon 1 sequence engineered with 109 CAG repeats targeting one allele of mouse huntingtin; hence the mutant Htt is expressed from the endogenous Hdh locus in a manner similar to the expression of mHtt in patients. Like most HD patients, these KI mice are heterozygous and express one normal mouse (Q7) and one expanded (Q111) allele which makes this transgenic mouse model a more precise representation of the human condition and therefore a better candidate for therapeutic trials. The animals reproduce key features of human disease, including an accurate expression of huntingtin protein and a similar timing of emotional, cognitive and motor impairment.
