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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Mouse models for the Wolf-Hirschhorn deletion syndrome.

Wolf-Hirschhorn syndrome (WHS) is a deletion syndrome caused by segmental haploidy of chromosome 4p16. 3. Its hallmark features include a 'Greek warrior helmet' facial appearance, mental retardation, various midline defects and seizures. The WHS critical region (WHSCR) lies between the Huntington's disease gene, HD, and FGFR3. In mice, the homologs of these genes map to chromosome 5 in a region of conserved synteny with human 4p16. 3. To derive mouse models of WHS and map genes responsible for subphenotypes of the syndrome, five mouse lines bearing radiation-induced deletions spanning the WHSCR syntenic region were generated and characterized. Similar to WHS patients, these animals were growth-retarded, were susceptible to seizures and showed midline (palate closure, tail kinks), craniofacial and ocular anomalies (colobomas, corneal opacities). Other phenotypes included cerebellar hypoplasia and a shortened cerebral cortex. Expression of WHS-like traits was variable and influenced by strain background and deletion size. These mice represent the first animal models for WHS. This collection of nested chromosomal deletions will be useful for mapping and identifying loci responsible for the various subphenotypes of WHS, and provides a paradigm for the dissection of other deletion syndromes using the mouse.[1]


  1. Mouse models for the Wolf-Hirschhorn deletion syndrome. Näf, D., Wilson, L.A., Bergstrom, R.A., Smith, R.S., Goodwin, N.C., Verkerk, A., van Ommen , G.J., Ackerman, S.L., Frankel, W.N., Schimenti, J.C. Hum. Mol. Genet. (2001) [Pubmed]
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