Small Animal Models

J.D. Cooper, S.E. Mole, C. Russell and J. Tyynelä

in The Neuronal Ceroid Lipofuscinoses (Batten Disease)

Second edition

Published on behalf of Oxford University Press

Published in print March 2011 | ISBN: 9780199590018
Published online November 2012 | e-ISBN: 9780191753459 | DOI:

Series: Contemporary Neurology Series

Small Animal Models

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Model systems provide an invaluable tool for investigating the molecular mechanisms that underlie NCL. This review highlights advances made using mice to model NCL, and the potential advantages of zebrafish models, an approach that for NCL is still in its infancy. Mice and zebrafish contain one orthologue of each of the known genes underlying NCL. Therefore, they have great potential for elucidating the roles of these proteins in brain development and function at the molecular and cellular levels, the level of central nervous system (CNS) organization, and at the level of the whole organism. Indeed, the zebrafish not only lends itself to embryology and genetics, but it is also a promising tool for high-throughput screening for therapeutics.

The discovery of the genetic basis of the majority of forms of NCL is a major advance in studying these profoundly disabling disorders. The ongoing process of identifying the genes that are mutated and revealing the specific mutations that are present is the first step towards investigating the underlying disease mechanisms. However, this information is also crucial for developing genetically accurate models of each form of NCL. As reviewed elsewhere in this volume, a wide variety of disease models have been identified or generated experimentally in species that range in scale from unicellular yeasts to large animals such as sheep and cows. Each of these different models has its particular advantages and has revealed new information about the basic neurobiology of different forms of NCL. However, the mainstay for modelling such genetically inherited disorders remains the use of genetically engineered or naturally occurring mutant mouse strains, which bear mutations in the appropriate gene.

Chapter.  16332 words. 

Subjects: Neurology

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