Progressive neuroinflammation and deficits in motor function in a mouse model with an Epg5 pathogenic variant of Vici syndrome

Transcriptomic profiling was performed on CNS tissues of 7 month old sibling control or homozygous mutant mice carrying a genetically engineered truncating W860X mutation recapitulating a pathogenic variant of Vici Syndrome. Analysis revealed robust neuroinflammatory signatures, implicating the activation of both microglia and astrocytes. Notably, the molecular profiles of Epg5-deficient mice share features with disease-associated microglia observed in other models of neurological disease and injury. Overall design: Total RNA isolated from anterior spinal cord or cerebellum of 7 month old wildtype control or W860X homozygous mutant mice (four mice each; two male, two female) was used in an Illumina-based bulk RNA sequencing for whole transcriptomic analyses.