The Jackson Laboratory
Building Disease Models to Better Understand How Mutations in MPZ Lead to CMT1B
The Jackson Laboratory will create several mouse models that will be instrumental in learning how gene mutations in MPZ lead to degeneration of the myelin sheath surrounding nerves in CMT1B. This is an important project for CMT drug development because these models will add to the supply of “humanized” models in CMT, of which there are very few today. The models will be made to express the human form of the MPZ gene, which gives a higher probability of success for developing and testing gene therapies. Using these “humanized” models, the translation to people with CMT could be easier.