Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndrome View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2006-11

AUTHORS

Jeffrey M. Long, Patricia LaPorte, Sandra Merscher, Birgit Funke, Bruno Saint-Jore, Anne Puech, Raju Kucherlapati, Bernice E. Morrow, Arthur I. Skoultchi, Anthony Wynshaw-Boris

ABSTRACT

Velocardiofacial/DiGeorge syndrome (VCFS/DGS) is a developmental disorder caused by a 1.5 to 3-Mb hemizygous 22q11.2 deletion. VCFS/DGS patients display malformations in multiple systems, as well as an increased frequency of neuropsychiatric defects including schizophrenia. Haploinsufficiency of TBX1 appears to be responsible for these physical malformations in humans and mice, but the genes responsible for the neuropsychiatric defects are unknown. In this study, two mouse models of VCFS/DGS, a deletion mouse model (Lgdel/+) and a single gene model (Tbx1 +/-), as well as a third mouse mutant (Gscl -/-) for a gene within the Lgdel deletion, were tested in a large behavioral battery designed to assess gross physical features, sensorimotor reflexes, motor activity nociception, acoustic startle, sensorimotor gating, and learning and memory. Lgdel/+ mice contain a 1.5-Mb hemizygous deletion of 27 genes in the orthologous region on MMU 16 and present with impairment in sensorimotor gating, grip strength, and nociception. Tbx1 +/- mice were impaired in grip strength similar to Lgdel/+ mice and movement initiation. Gscl -/- mice were not impaired in any of the administered tests, suggesting that redundant function of other Gsc family members may compensate for the loss of Gscl. Thus, although deletion of the genes in the Lgdel region in mice may recapitulate some of the behavioral phenotypes seen in humans with VCFS/DGS, these phenotypes are not found in mice with complete loss of Gscl or in mice with heterozygous loss of Tbx1, suggesting that the neuropsychiatric and physical malformations of VCFS/DGS may act by different genetic mechanisms. More... »

PAGES

247-257

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10048-006-0054-0

DOI

http://dx.doi.org/10.1007/s10048-006-0054-0

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1041269981

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/16900388


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