Nature Genetics
11, 177 - 184 (1995)
doi:10.1038/ng1095-177
A mouse model for Down syndrome exhibits learning and behaviour deficitsRoger H. Reeves1, Nicholas G. Irving1, 5, Timothy H. Moran2, Anny Wohn2, Cheryl Kitt3, Sangram S. Sisodia3, Cecilia Schmidt4, Roderick T. Bronson4
& Muriel T. Davisson4
1Department of Physiology, The Johns Hopkins University School of Medicine, 725 N. Wolfe Street, Baltimore, Maryland 21205, USA
2Department of Psychiatry, The Johns Hopkins University School of Medicine, 725 N. Wolfe Street, Baltimore, Maryland 21205, USA
3Department of Pathology, The Johns Hopkins University School of Medicine, 725 N. Wolfe Street, Baltimore, Maryland 21205, USA
4The Jackson Laboratory, Box 258, Bar Harbor, Maine 04609, USA
5Present address: Department of Neurology, Institute of Psychiatry, London SE5 8AF, UK Correpsondence should be addressed to R.H.R. or M.T.D. Trisomy 21 or Down syndrome (DS) is the most frequent genetic cause of mental retardation, affecting one in 800 live born human beings. Mice with segmental trisomy 16 (Ts65Dn mice) are at dosage imbalance for genes corresponding to those on human chromosome 21q21−22.3—which includes the so−called DS 'critical region'. They do not show early−onset of Alzheimer disease pathology; however, Ts65Dn mice do demonstrate impaired performance in a complex learning task requiring the integration of visual and spatial information. The reproducibility of this phenotype among Ts65Dn mice indicates that dosage imbalance for a gene or genes in this region contributes to this impairment. The corresponding dosage imbalance for the human homologues of these genes may contribute to cognitive deficits in DS.
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