Down syndrome in humans is caused by trisomy of chromosome 21 (Hsa21). It is a relatively common, complex disorder that arises from a defect in gene dosage. If we knew which of the ~300 genes on Hsa21 were involved in which aspects of the syndrome, such as the leukemia, early onset dementia, etc., then it would help us understand which pathways were involved and help in designing treatments not only for the Down syndrome population but also for the euploid population which is affected by the same disorders. A handful of mouse models exist that result in trisomy for portions of the regions homologous to human chromosome 21. We have taken models these a step further by placing human chromosome 21 into a mouse and so creating a strain that is aneuploid, and carries a freely segregating human chromosome. We have conducted a phenotypic analysis of this strain and find that it does indeed model human Down syndrome. This model plus other new mouse strains will help us dissect the link between genotype and phenotype in this disorder.
King's College London (2011) Proc Physiol Soc 22, SA10
Research Symposium: An unusual mouse modeling aspects of Down syndrome
V. Tybulewicz2, F. Wiseman1, S. Watson2, E. Lana Elola1, A. Ruparelia2, O. Sheppard2, A. Slender1, E. Fisher2
1. UCL Institute of Neurology, London, United Kingdom. 2. MRC NIMR, London, United Kingdom.
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