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Human Molecular Genetics Advance Access published online on January 6, 2004
Human Molecular Genetics, doi:10.1093/hmg/ddh044
© 2004 by Oxford University Press
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©2004 Oxford University Press

Article

Behavioral characterization of mouse models for Smith-Magenis Syndrome and Dup 17 (p11.2 p11.2)

Katherina Walz 1, Corinne Spencer 1, Krista Kaasik 1, Cheng C. Lee 1, James R. Lupski 2, and Richard Paylor 3*

1 Departments of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, USA, 77030
2 Departments of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, USA, 77030; Departments of Pediatrics, Baylor College of Medicine, Houston, Texas, USA, 77030; Texas Children's Hospital, Houston, Texas, USA, 77030
3 Departments of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, USA, 77030; Division of Neurosciences, Baylor College of Medicine, Houston, Texas, USA, 77030

* To whom correspondence should be addressed. E-mail: rpaylor{at}bcm.tmc.edu.


  Abstract

Contiguous gene syndromes (CGS) refer to a group of disorders associated with chromosomal rearrangements in which the phenotype is thought to result from altered copy number of physically linked dosage sensitive genes. Smith-Magenis Syndrome and [dup(17)(p11.2p11.2)] are CGS associated with a heterozygous deletion or duplication of band p11.2 of chromosome 17, respectively. We previously constructed animals models for these CGSs by engineering rearranged chromosomes carrying a deletion/deficiency (Df(11)17) (Del mutant) or a duplication (Dp(11)17) (Dup mutant) of the syntenic region on mouse chromosome 11. Here we present a behavioral analysis of these models indicating that heterozygous male mice carrying the engineered deletion or the duplication are hypoactive or hyperactive respectively. In addition, male Dup mutant mice, but not Del mutant mice, have impaired contextual fear conditioning. Circadian rhythm studies revealed period length differences in Del mutant mice, but not Dup mutant mice. These results indicate that some of the behavioral abnormalities are gene dosage sensitive, whereas other behavioral abnormalities are specific to mice carrying the deletion or the duplication and can be observed in a sex preferential manner. Our findings suggest that there is a gene(s) present in this defined genomic interval that is responsible for behavioral abnormalities in the mouse as has been shown for the human syntenic region.


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