Post on 19-Dec-2015
Rett Syndrome
• 2nd most common genetic cause of Mental Retardation
• Early development normal loss of language, cognitive and motor abilities
• Single gene defect: Mecp2
• KO (Jaenisch, Bird) recapitulates disease, as does forebrain neuron selective KO.
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http://www.ncbi.nlm.nih.gov/disease/chr21-Y.html
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Cre/lox system
http://www.bioteach.ubc.ca/MolecularBiology/TargetingYourDNAWithTheCreloxSystem/
But remarkably little effect on gene expression detected in microarray study of mouse KOTudor et al. 2002
MeCP2 represses gene expression