SMA modifiers in model mice-WGS

Spinal muscular atrophy is an infantile onset motor neuron disease caused by low SMN protein. The link between low SMN and selective motor neuron loss in the disease is still not clear. One means of establishing such links is through the identification of genetic modifiers in model system. We found that the SMA phenotype varies considerably in model mice depending on their strain background. Using these discordant phenotypes, we mapped and identified a novel SMA modifier. This was accomplished by carrying out whole genome sequencing of modified and typically affected model mice. Follow up GWAS analysis confirmed the SMA modifier and points to novel role for SMN in regulating functions important to motor neurons.