Animal model of Charcot-Marie-Tooth disease as HSP27 mutant (S135F) carrier
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United States of America Patent
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Dec 12, 2017
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app pub date -
Oct 1, 2015
filing date -
Apr 2, 2013
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Abstract
The present invention relates to a HSP27 mutation (S135F) mediated Charcot-Marie-Tooth disease (CMT) animal model. Particularly, the vector expressing mutant HSP27 protein wherein the 135th serine is substituted with phenylalanine has been injected in the mouse zygote and then the mouse harboring the expression vector was selected. The selected mouse was confirmed to display Charcot-Marie-Tooth disease phenotype, so that the animal model was expected to be efficiently used for the evaluation of the effect of Charcot-Marie-Tooth disease treating material candidates.
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