Characterization of FKRP mutant mouse model

Dr. Kanneboyina Nagaraju

Children’s National Medical Center (Washington, DC)

 

Project Summary:

The goal of this study is to characterize the phenotype of a limb-girdle muscular dystrophy 2I (LGMD2I) model FKRP-P448L neo- mice, developed by Dr Qi Lu, using standard functional and behavioral tests performed at CNMC’s preclinical drug testing facility. The study will perform a timecourse analysis of grip strength for limb muscle function, locomotor activity, cardiac function, lung function and histological evaluation of skeletal muscle, diaphragm and heart. Mice will be analyzed from ages 1 to 9 months. This characterization is a crucial step to assess how relevant this mouse model is to mimicking the disease and thus to define whether it is a good preclinical model for LGMD2I.

This grant is jointly-funded by the LGMD2I Research Fund, the Samantha Brazzo Foundation and Cure CMD.