Research Awards

Berge Minassian, M.D.
Hospital for Sick Children
Generation and characterization of mice with isoform-specific Mecp2-deficiency
$100,000

Lay Progress Report (November 2006)

We reported in 2004 the discovery of a new form of the Mecp2 protein. This form, now called Mecp2-e1 is ten times more abundant in the brain than the previously known form Mecp2-e2. In order to analyze the role of each protein in Rett syndrome, we have aimed to generate two types of mice, one type lacking Mecp2-e1, and the other lacking Mecp2-e2. The genetic engineering required turned out to be extremely difficult, but we have now almost completed the process. We are running final diagnostics to ensure the constructs are correct. As soon as this is done, we will rapidly generate the two different mice, and analyze them behaviorally and pathologically. We will then be able to assign the role of each mecp2 form in the different features of Rett syndrome.