Article
Knock-in mouse models for CMTX1 show a loss of function phenotype in the peripheral nervous system.
Experimental neurology - 1 Feb 2023
Abrams Charles K, Lancaster Eunjoo, Li Jian J, Dungan Gabriel, Gong David, Scherer Steven S, Freidin Mona M
Abstract excerpt
The X-linked form of Charcot-Marie-Tooth disease (CMTX1) is the second most common form of CMT. In this study we used CRISPR/Cas9 to develop new "knock-in" models of CMTX1 that are more representative of the spectrum of mutations seen with CMTX1 than the Cx32 knockout (KO) mouse model used previously. We compared mice of four genotypes - wild-type, Cx32KO, p.T55I, and p.R75W. Sciatic motor conduction velocity...
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