alexa Beyond Widespread Mecp2 Deletions to Model Rett Syndrome: Conditional Spatio-Temporal Knockout, Single-Point Mutations and Transgenic Rescue Mice
ISSN: 2165-7890

Autism-Open Access
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Review Article

Beyond Widespread Mecp2 Deletions to Model Rett Syndrome: Conditional Spatio-Temporal Knockout, Single-Point Mutations and Transgenic Rescue Mice

Wei Li and Lucas Pozzo-Miller*

Department of Neurobiology, Civitan International Research Center, The University of Alabama at Birmingham, Birmingham, AL 35294, USA

*Corresponding Author:
Lucas Pozzo-Miller, PhD
Department of Neurobiology
SHEL-1002, The University of Alabama at Birmingham
1825 University Blvd, Birmingham
AL 35294-2182, USA
Tel: +1 205-975-4659
Fax: +1 205-934-6571
E-mail: [email protected]

Received date: August 22, 2012; Accepted date: September 28, 2012; Published date: October 01, 2012

Citation: Li W, Pozzo-Miller L (2012) Beyond Widespread Mecp2 Deletions to Model Rett Syndrome: Conditional Spatio-Temporal Knockout, Single-Point Mutations and Transgenic Rescue Mice. Autism S1:005. doi:10.4172/2165-7890.S1-005

Copyright: © 2012 Li W, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

 

Abstract

Rett syndrome (RTT) is one of the leading causes of intellectual disabilities in women. In addition to a few autistic features, characteristic symptoms that distinguish from classical autism include stereotypic hand movements, motor coordination deficits, breathing abnormalities, seizures and loss of acquired speech as well as purposeful hand use. RTT is highly associated with MECP2, the gene encoding for the transcription factor that binds methylated Cytosine in C-p-G islands in DNA, controlling gene expression and chromatin remodeling. In this review, we will briefly discuss current perspectives on MeCP2 function, and then will describe in detail novel mouse models of RTT based on lossof- function of Mecp2 and their use for establishing rescue models, wherein we pay close attention to behavioral and morphological phenotypes.

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