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Article

C698R mutation in Lrsam1 gene impairs nerve regeneration in a CMT2P mouse model.

Scientific reports - 16 Jul 2022

Moiseev Daniel, Wazir Zafar, Liu Donghao, Li Jun, Hu Bo

Abstract excerpt

Missense mutation C694R in the RING domain of the LRSAM1 gene results in a dominantly inherited polyneuropathy, Charcot-Marie-Tooth disease type 2P (CMT2P). We have generated and characterized a Lrsam1C698R knock-in mouse model produced through CRISPR/Cas9 technology. Both heterozygous (Lrsam1+/C698R) and homozygous (Lrsam1C698/C698R) knock-in mice exhibited normal motor functions on behavioral tests as well as...

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Identifiers

PMID: 35842440
DOI: 10.1038/s41598-022-15902-3
PMCID: PMC9288509

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