Human Molecular Genetics, 2001, Vol. 10, No. 23 2645-2650
© 2001 Oxford University Press
Mice deleted for the DiGeorge/velocardiofacial syndrome region show abnormal sensorimotor gating and learning and memory impairments
1Department of Molecular and Human Genetics, 2Division of Neuroscience and 3Department of Pediatrics (Cardiology), Baylor College of Medicine, One Baylor Plaza, 325D, Houston, TX 77030, USA
Del22q11 syndrome is caused by heterozygous deletion of an 
3 Mb segment of chromosome 22q11.2. Children diagnosed with del22q11 syndrome commonly have learning difficulties, deficits of motor development, cognitive defects and attention deficit disorder. They also have a higher than normal risk for developing psychiatric disorders, mainly schizophrenia, schizoaffective disorder and bipolar disorder. Here, we show that mice that are heterozygously deleted for a subset of the genes that are deleted in patients have deficits in sensorimotor gating and learning and memory. The finding of sensorimotor gating deficits is particularly significant because patients with schizophrenia and schizotypal personality disorder show similar deficits. Thus, our deletion mouse models at least two major features of the del22q11-associated behavioral phenotype, and as such, represents an animal model of this complex behavioral phenotype. These findings not only open the way to pharmacological analyses that may lead to improved treatments, but also to the identification of gene/s that modulate these specific behaviors in humans.
+ To whom correspondence should be addressed. Tel: +1 713 798 8286; Fax: +1 713 798 1483; Email: elindsay@bcm.tmc.eduPresent address:Kellie L. McIlwain, Lexicon Genetics, The Woodlands, TX, USA
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