Fragile X is a neurodevelopmental disorder caused by a CGG expansion in the FMR1 gene. We undertake preclinical Fragile X research to drive breakthroughs in and support those affected by this challenging disorder.
The FMR1 KO Mouse Model
These mice carry a knockout allele of the FMR1 gene and exhibit several phenotypic characteristics akin to Fragile X syndrome in humans, such as hyperactivity, repetitive behavior, and audiogenic seizures. The absence of the Fragile X mental retardation protein (FMRP) in these mice leads to the activation of the RAC1 protein, resulting in abnormal dendritic spines in various brain regions and altered synaptic function.
The changes in synaptic plasticity impair long-term potentiation in the cortex and hippocampus while augmenting long-term depression in the hippocampus and cerebellum. Male FMR1 KO mice serve as valuable tools for Fragile X syndrome studies.
Our neurodevelopmental disorders areas of expertise: