Dr. Osborne's research aims to understand the molecular basis of Williams syndrome and her laboratory utilizes both clinical samples and animal models to probe the relationship between genes at 7q11.23 and cognition, language and behavior.
Animal models of Williams syndrome†
Article first published online: 22 APR 2010
Copyright © 2010 Wiley-Liss, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Special Issue: Williams Syndrome
Volume 154C, Issue 2, pages 209–219, 15 May 2010
How to Cite
Osborne, L. R. (2010), Animal models of Williams syndrome. Am. J. Med. Genet., 154C: 209–219. doi: 10.1002/ajmg.c.30257
How to cite this article: Osborne LR. 2010. Animal models of Williams syndrome. Am J Med Genet Part C Semin Med Genet 154C:209–219.
- Issue published online: 22 APR 2010
- Article first published online: 22 APR 2010
- Canadian Institutes of Health Research
- Williams syndrome;
- mouse models;
- gene deletion;
In recent years, researchers have generated a variety of mouse models in an attempt to dissect the contribution of individual genes to the complex phenotype associated with Williams syndrome (WS). The mouse genome is easily manipulated to produce animals that are copies of humans with genetic conditions, be it with null mutations, hypomorphic mutations, point mutations, or even large deletions encompassing many genes. The existing mouse models certainly seem to implicate hemizygosity for ELN, BAZ1B, CLIP2, and GTF2IRD1 in WS, and new mice with large deletions of the WS region are helping us to understand both the additive and potential combinatorial effects of hemizygosity for specific genes. However, not all genes that are haploinsufficient in humans prove to be so in mice and the effect of genetic background can also have a significant effect on the penetrance of many phenotypes. Thus although mouse models are powerful tools, the information garnered from their study must be carefully interpreted. Nevertheless, mouse models look set to provide a wealth of information about the neuroanatomy, neurophysiology and molecular pathways that underlie WS and in the future will act as essential tools for the development and testing of therapeutics. © 2010 Wiley-Liss, Inc.