Development and characterization of a Drosophila model of Snyder-Robinson syndrome

Snyder-Robinson Syndrome (SRS) is an X-linked disorder characterized by intellectual disability, skeletal abnormalities, and immune system dysfunction. SRS is caused by mutations in the spermine synthase (SMS) gene, leading to polyamine dysregulation, and a myriad of cellular dysfunctions. This chapter presents a methodology for developing and characterizing a Drosophila model of SRS that recapitulates phenotypes of SMS deficiency. The protocol covers the generation of the Drosophila model, phenotypic characterization, data analysis methods, and troubleshooting to enhance reproducibility and rigor.