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Mutations in the MECP2 gene cause the autism spectrum disorder Rett syndrome (RTT). One of the most common MeCP2 mutations associated with RTT occurs at threonine 158, converting it to methionine (T158M) or alanine (T158A). To understand the role of T158 mutations in the pathogenesis of RTT, we generated knockin mice that recapitulate the MeCP2 T158A mutation. We found a causal role for T158A mutation in the development of RTT-like phenotypes, including developmental regression, motor dysfunction, and learning and memory deficits. These phenotypes resemble those present in Mecp2 null mice and manifest through a reduction in MeCP2 binding to methylated DNA and a decrease in MeCP2 protein stability. The age-dependent development of event-related neuronal responses was disrupted by MeCP2 mutation, suggesting that impaired neuronal circuitry underlies the pathogenesis of RTT and that assessment of event-related potentials (ERPs) may serve as a biomarker for RTT and treatment evaluation.
Pubmed ID: 22119903 RIS Download
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Image processing software designed to analyse functional images of cells and blood vessels, primarily from two-photon microscopy. CHIPS is a set of classes and functions for MATLAB that integrates a number of algorithms, both novel and existing, into a complete image processing pipeline.
View all literature mentionsA single point video tracking system. It uses the center of the mass of the animal and tracks it over the course of the experiment to determine location, distance traveled, velocity etc. Examples of applications include: Open Field, Novel Object Recognition, Maze Analysis, Morris Water Maze, Barnes Maze, Place Preference, etc.
View all literature mentionsSoftware for detecting the onset and completion of freezing behavior of a rodent. It outputs the freezing behaviors as a sequential list, allowing for further statistical analysis. Freezescan detects freezing behaviors, random intervals, interval freezing, and activity levels. It also detects animal activity during the experiment and can output in quantitative and graphical form.
View all literature mentionsMus musculus with name C57BL/6J from IMSR.
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