Genetic approaches to studying mouse models of human seizure disorders

Advances in Experimental Medicine and Biology
Yan Yang, Wayne N Frankel

Abstract

In conclusion, we have discussed a reverse genetics approach to studying seizure disorders in mice (Fig. 1), employing a targeted mutagenesis method to exploit the genetic defects identified in human epilepsy families. After detailed characterization of the nature of the human mutation and the mouse counterpart gene, a targeting vector containing the human disease allele is created. The endogenous mouse gene is replaced by the human disease allele through homologous recombination in ES cells, leading to the generation of chimeric animals. Mice carrying one copy or both copies of the human mutation can be bred to study the phenotypic effect of heterozygous and homozygous mutations. At this stage, one may want to split the newly created mice into two groups. One group will go through seizure phenotyping tests, while the other group will be used to generate disease allele-carrying mice on a different genetic background. Phenotypic characterization of mice on different inbred strains includes behavioral monitoring and EEG analysis looking for the occurrence of spontaneous seizures, as well as routine cage examination looking for handling-provoked seizure and ECT- and PTZ- induced seizure paradigms looking for sensitivity to these s...Continue Reading

Citations

Mar 22, 2006·Human Mutation·Dominique AudenaertPeter De Jonghe
Nov 1, 2006·The European Journal of Neuroscience·Geoff E StilwellScott W Chouinard
Aug 12, 2009·Proceedings of the National Academy of Sciences of the United States of America·Steven J ClapcoteJohn C Roder
Nov 10, 2010·Cerebral Cortex·Catherine A DyeKelly J Huffman
Jun 2, 2012·Expert Opinion on Drug Discovery·Adam StewartAllan V Kalueff
Dec 4, 2019·Epilepsy Currents·Lola Lozano, Catherine A Christian
Jul 27, 2007·Epilepsia·H Jürgen WenzelPhilip A Schwartzkroin
Jun 5, 2021·Communications Biology·Aliesha GriffinScott C Baraban

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