Exome_sequencing_of_marble_mouse-sc-2011-01-11
Exome_sequencing_of_marble_mouse
Exome sequencing of the marble mouse. We have isolated a mouse line that features CA1 pyramidal cell layer ectopia. In this experiment we will sequence the exome of this mouse in an attempt to discover the causal mutation.. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/
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.