Exome_sequencing_of_marble_mouse

The marble mouse was detected during a neuroanatomical screen of ENU mutagenised pedigrees focusing on defects of the hippocampus, cortex, corpus callosum and ventricles. The aim of this screen is to find novel mutations associated with mental retardation and other disorders with a neuroanatomical and ultimately genetic pathological basis. As the marble mouse features cellular ectopia within CA1 of the hippocampus, a structure associated with learning and memory, it a strong candidate. It is likely the mutation disrupts aspects of neuronal migration leading to cellular ectopia. Consequently its identification may be informative of pathways underlying cell positioning during brain development.