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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.

Original publication

DOI

10.1038/ng1095-177

Type

Journal article

Journal

Nat Genet

Publication Date

10/1995

Volume

11

Pages

177 - 184

Keywords

Alzheimer Disease, Amyloid beta-Peptides, Analysis of Variance, Animals, Chromosome Mapping, Chromosomes, Human, Pair 21, Disease Models, Animal, Down Syndrome, Female, Gene Expression, Humans, Learning, Male, Mice, Mice, Inbred C3H, Mice, Inbred C57BL, Mice, Neurologic Mutants, Motor Activity, Sex Characteristics