Current Methods in Fragile X Animal Model Research

TOPICAL COLLECTIONS

Guest Editor

Sarah Rotschafer

Mercer University School of Medicine, Department of Biomedical Sciences

Dr. Sarah Rotschafer is an assistant professor of neuroscience at the Mercer University School of Medicine. Dr. Rotschafer received her PhD in neuroscience from the University of California, Riverside and did her postdoctoral work at the University of California, Irvine before joining Mercer University in 2018. Dr. Rotschafer’s research has two main focuses. The first goal of Dr. Rotschafer’s work is to research how brainstem-level changes in fragile X syndrome may alter auditory processing at the midbrain and cortex. To that end, Dr. Rotschafer studies fragile X model mice using microscopy, cell culture, and behavioral testing. Dr. Rotschafer’s lab also works to improve access to autism spectrum disorder resources in rural communities by maintaining a website detailing the availability of autism-focused resources in rural areas and by researching factors motivating rural families to pursue developmental testing for their children.

Collection Overview

Fragile X syndrome (FXS) is the leading monogenetic cause of autism spectrum disorder. Individuals with FXS frequently experience symptoms of autism, but often also show signs of sensory hypersensitivities, developmental delays, and abnormalities in cell morphology. Fragile X mice (Fmr1 KO mice) were created in 1994 as a model for better understanding the underlying physiological and neurological effects of autism and FXS. Fmr1 KO mice mirror many of the signs demonstrated by people with FXS, including altered cell morphology, sensory sensitivities, and certain behavioral aberrations. The range of animal models available for studying FXS has subsequently been expanded to include rats, drosophila, and zebrafish, with each animal model offering a unique means of studying specific aspects of FXS. This methods collection will feature novel techniques devised by researchers for detecting FXS-related changes in animal models at the cellular, neural circuit, and behavioral levels. In particular, this collection will emphasize methods for neurological alterations in Fmr1 KO mice.