This study used a C9orf72 Knockout mouse model developed by genOway, in which exons 3–4 of the C9orf72 gene were deleted. When crossed with Sod1G93A ALS mice, this model demonstrated that loss of C9orf72 function exacerbates neuromuscular pathology by promoting peripheral nerve demyelination, immune cell infiltration, and NMJ instability, accelerating ALS-like disease progression.
Loss of C9orf72 impairs myelination in sciatic nerves, increases CD8⁺ T cells and MHC I expression in Schwann cells, alters muscle immune transcriptomes, and worsens NMJ denervation. In Sod1G93A mice, this leads to faster onset of hindlimb weakness and earlier disease progression.
C9orf72^–/– Knockout mouse — genOway-developed, constitutive deletion of exons 3–4, used alone and in Sod1G93A ALS mutant background
ALS progression, immune dysregulation, peripheral nerve degeneration, neuromuscular junction breakdown, myelin defects
Targeted deletion of C9orf72 exons 3–4 via homologous recombination, cross with Sod1G93A ALS mice, transmission EM of sciatic nerves, NMJ immunostaining, g-ratio quantification, behavioral scoring, RT-qPCR of immune markers (CD4, CD8, CD68, CD11c) in nerve and muscle
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