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Mouse model of Rett SyndromeAdd to my bookmarks

Nature Neuroscience

November 28, 2011

Mice engineered to contain a genetic mutation commonly found in Rett syndrome show symptoms associated with the disease, reports a study published online this week in Nature Neuroscience. Rett syndrome is a type of autism spectrum disorder that is associated with mutations in a gene called methyl-CpG binding protein 2 (MeCP2). Although individuals with Rett mutations develop normally in the first two years of life, they fail to develop normal language and motor skills, and have breathing and cognitive difficulties. Zhaolan Zhou and colleagues engineered a mouse line that contains this single MeCP2 mutation. The mice subsequently displayed similar developmental delays and locomotor and breathing abrnormalities seen in Rett patients. They also showed abnormal neurophysiological responses, cognitive impairments and anxiety-like behaviour, suggested that this may provide a good model system to study the neuronal basis of this disorder.

DOI:10.1038/nn.2997 | Original article

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