The availability of efficient techniques for manipulation of gene expression has made the zebrafish

Myotonia congenita is an inherited muscle disorder that affects muscle relaxation. It is characterized by muscle stiffness after a voluntary contraction, which typically decreases with repetitive movement. Human myotonia congenita can be inherited in an autosomal recessive or autosomal dominant . The clinical evaluations of the myotonia congenita include the expression of muscle stiffness or muscle weakness, muscle hypertrophy, percussion and electromyographic myotonia. CLCN1, a type 1 chloride channel which is expressed almost exclusively in skeletal muscle fibers, plays important roles for the physiological functions of skeletal Cefadroxil muscles. CLCN1 is a voltage-dependent ion channel, which is activated by depolarization. Sequence analysis of CLCN1 showed that mutations linked to myotonia are scattered over the entire sequence of the channel protein, and include insertion/deletions, missense, nonsense, and splicing mutations. CLCN1 mutations impair CLCN1 functions and render the Benzyl benzoate plasma membrane hyper-excitable, leading to clinical myotonia and typical electromyographic changes. They are relatively small fish and allow easy handling and maintenance at low cost. In addition, zebrafish behavior can be easily observed and analyzed in a controlled environment. The availability of efficient techniques for manipulation of gene expression has made the zebrafish an attractive and efficient system to study human diseases including movement disorders and myopathies. In this study, we generated zebrafish models for myotonia congenita by expressing human CLCN1 carrying mutations associated with human patients suffering from myotonia under the control of the muscle specific promoter of the a-actin gene. These transgenic fish were used to develop novel video analytic tools for zebrafish tracking, feature extraction and movement analysis, with a particular focus on individual fish movement parameters. A video analytic tool should be able to provide precise quantitative measurements of zebrafish behavioral abnormalities, which can be used for screening of compounds that induce a change from normal or, in the case of a disease model, from abnormal movement.

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