DETERMINING APPLICABILITY OF NOVEL MOUSE MODEL AS MODEL FOR STUDYING FOXG1 DISORDER

Abstract

Foxg1 Disorder is a rare yet devastating neurodevelopmental disorder that is characterized by intellectual, motor, and social deficits as well as seizures. It is accompanied by neuroanatomical abnormalities. The protein Forkhead box G1 (FOXG1), the mutation of which causes Foxg1 Disorder, is a crucial transcription factor involved in many aspects of neurodevelopment. There is a crucial need for therapies and treatments to address FOXG1 disorder, as the individuals experiencing it have a markedly decreased quality of life and there are currently no identified therapies that modify the disease or address core issues. A novel mouse model has been developed that can potentially be used to study the potential treatments for Foxg1 Disorder. The mouse model also has the potential to be used for studying the impact of postnatal re-expression of the full dosage of FOXG1 protein. The mouse model recapitulates in part the phenotypes associated with Foxg1 Disorder including decreased FOXG1 protein, neuroanatomical abnormalities, and some motor and social deficits. The attempts to determine the presence of the re-expression of FOXG1 protein were unsuccessful.