In the February issue of Transgenic Research, Dr. Monique Lorson, in collaboration with Drs. Randall Prather, Chris Lorson and Kevin Wells, report the generation of knockout SMN+/- pigs.

The goal of this project is to develop a large animal model of Spinal Muscular Atrophy to be used by the SMA research community for translational applications. So why the pig? It is anticipated that since the pig has many biological and physiological similarities to the developing human that a pig SMA model will more likely be directly translated into the human context. As a result, the delivery and outcome of therapeutics over a prolonged period of time can be studied. The SMA pig will be made in three stages: 1) generate SMN+/- pigs, reported here. These pigs have one normal copy of SMN and one mutated copy; 2) add the human SMN2 transgene to make SMN+/-;SMN2 pigs, currently being accomplished. Pigs like all other mammals except humans do not have SMN2 so you have to add human SMN2; 3) knockout the second SMN allele to make SMN-/-;SMN2 pigs, we will keep you posted! These pigs will have two mutant copies of SMN and have human SMN2 with the intent of generating animals that represent SMA Type I, Type II and Type III.

This project was funded through grants from FightSMA and a R21 NIH/NINDS.