Animal models of Williams syndrome

• Published in: American journal of medical genetics. Part C, Seminars in medical genetics Vol. 154C; no. 2; pp. 209 - 219
• Main Author: Osborne, Lucy R.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 15.05.2010; Wiley-Liss
• Subjects: Anatomy; Animal models; Animals; behavior; Biological and medical sciences; Disease Models, Animal; Gene Deletion; Genetic Association Studies; Genomes; Hemizygosity; Humans; Medical genetics; Medical sciences; Mice; Molecular modelling; mouse models; Neurophysiology; phenotype; Point mutation; Williams syndrome; Williams Syndrome - genetics; Chromosomal aberration; mouse models; Animal model; Rodentia; Williams syndrome; gene deletion; Vertebrata; Phenotype; Mammalia; Gene; Mouse; Deletion; Genetics; Behavior
• ISSN: 1552-4868; 1552-4876; 1552-4876
• DOI: 10.1002/ajmg.c.30257

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.