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Human Molecular Genetics Advance Access originally published online on January 6, 2004
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Human Molecular Genetics, 2004, Vol. 13, No. 4 367-378
DOI: 10.1093/hmg/ddh044

Behavioral characterization of mouse models for Smith–Magenis syndrome and dup(17)(p11.2p11.2)

Katherina Walz1, Corinne Spencer1, Krista Kaasik1, Cheng C. Lee1, James R. Lupski1,2,4 and Richard Paylor1,3,*

1Department of Molecular and Human Genetics and 2Department of Pediatrics, 3Division of Neurosciences, Baylor College of Medicine, Houston, TX 77030, USA and 4Texas Children's Hospital, Houston, TX 77030, USA

Received September 22, 2003; Accepted December 10, 2003

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 animal 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.

* To whom correspondence should be addressed. Tel: +1 7137986124; Fax: +1 7137987773; Email: rpaylor{at}bcm.tmc.edu


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