Topic: Fmr1 knockout

Fragile X Syndrome (FXS), a frequent form of inherited intellectual disability and a leading monogenic cause of autism, is caused by lack/reduction of fragile X mental retardation protein (FMRP), an RNA-binding protein involved in several aspects of RNA metabolism. Abnormal expression of proteins at synapses underlies brain dysfunction in FXS. FMRP is also implicated in DNA damage response and is a component of stress granules (SGs), cytoplasmatic aggregates that form in response to stress and are protective against apoptosis. Evidence in the mouse model of FXS suggests an excess of oxidizing

Exaggerated responses to sensory stimuli is a hallmark of Fragile X syndrome (FXS), contributes to, inattention, anxiety, and learning challenges. Such sensory hypersensitivity are recapitulated in the Fmr1 knockout (KO). Recent studies in Fmr1 KO mice have demonstrated differences in GABAergic inhibition, including activity of cortical interneurons as well as a delayed switch in the polarity of GABA signaling during development. Previously, we found that administration of bumetanide to block the chloride (Cl-) transporter NKCC1, could rescue synaptic circuit phenotypes in primary somatosensor