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- W4220732439 abstract "Abstract Objective: Missense mutation C694R in the RING domain of the LRSAM1 gene results in a dominantly inherited peripheral neuropathy, Charcot-Marie-Tooth disease type 2P (CMT2P). In this study, we have generated a Lrsam1 C698R knock-in mouse model, which was extensively characterized. Methods: Mice with a heterozygous Lrsam1 +/ C698R mutation were generated by CRISPR/Cas9 technology. The C698R Lrsam1 knock-in mice were evaluated clinically using Rotarod and hindlimb clasping tests, physiologically by nerve conduction studies, morphologically on nerve sections. Results: Heterozygous ( Lrsam1 +/C698R ) and homozygous knock-in ( Lrsam1 C698/C698R ) mice exhibited normal motor functions on behavioral tests and nerve conduction studies. Axonal density and myelin thickness were not significantly different between mutants and wild-type mice by sciatic nerve morphometric analysis up to 17 months of age. In line with the normal findings in native mice, interactions between mutant LRSAM1 and RNA-binding proteins (such as FUS and G3BP1) were still present in mouse cells, which differs from the disrupted protein-protein interactions in human CMT2P cells. However, after crush nerve injury, Lrsam1 +/C698R mice had a mild, but statistically significant, reduced compound nerve action potential (CMAP) and conduction velocity (CV) during recovery. Interpretation: C698R mutation results in mild impairment of nerve regeneration in mice. We speculate that repetitive nerve injuries may, at least partially, contribute to the slowly progressive axonal loss in CMT2P." @default.
- W4220732439 created "2022-04-03" @default.
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- W4220732439 date "2022-04-01" @default.
- W4220732439 modified "2023-09-29" @default.
- W4220732439 title "C698R Lrsam1 knock-in mouse model for CMT2P" @default.
- W4220732439 doi "https://doi.org/10.21203/rs.3.rs-1482385/v1" @default.
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