Article
Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models.
PLoS biology - 23 Nov 2010
Ricard Guénola, Molina Jessica, Chrast Jacqueline, Gu Wenli, Gheldof Nele, Pradervand Sylvain, Schütz Frédéric, Young Juan I, Lupski James R, Reymond Alexandre, Walz Katherina
Abstract excerpt
A large fraction of genome variation between individuals is comprised of submicroscopic copy number variation of genomic DNA segments. We assessed the relative contribution of structural changes and gene dosage alterations on phenotypic outcomes with mouse models of Smith-Magenis and Potocki-Lupski syndromes. We phenotyped mice with 1n (Deletion/+), 2n (+/+), 3n (Duplication/+), and balanced 2n compound...
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