Details

Autor(en) / Beteiligte

• van Bruggen, Rebekah
• Maksimovic, Katarina
• You, Justin
• Tran, David Duc
• Lee, Hyeok Jun
• Khan, Mashiat
• Kao, Ching Serena
• Kim, Jihye Rachel
• Cho, Wooin
• Chen, Xiao Xiao Lily
• Park, Jeehye

Titel

MATR3 F115C knock-in mice do not exhibit motor defects or neuropathological features of ALS

Ist Teil von

• Biochemical and biophysical research communications, 2021-09, Vol.568, p.48-54

Ort / Verlag

Elsevier Inc

Erscheinungsjahr

2021

Quelle

Alma/SFX Local Collection

Beschreibungen/Notizen

• The F115C mutation in the MATR3 gene has been linked to amyotrophic lateral sclerosis (ALS). To determine the pathogenicity of the F115C mutation and the mechanism by which this mutation causes ALS, we generated mice that harbor the F115C mutation in the endogenous murine Matr3 locus. Heterozygous or homozygous MATR3 F115C knock-in mice were viable and did not exhibit motor deficits up to 2 years of age. The mutant mice showed no significant differences in the number of Purkinje cells or motor neurons compared to wild-type littermates. Neuropathological examination revealed an absence of MATR3 and TDP-43 pathology in Purkinje cells and motor neurons in the mutant mice. Together, our results suggest that the F115C mutation in MATR3 may not confer pathogenicity. •Generation of mice that harbor ALS-linked F115C mutation in endogenous Matr3 gene.•MATR3 F115C knock-in mice are viable and do not show any overt motor phenotypes.•Absence of Purkinje cell loss or motor neuron degeneration in MATR3 F115C knock-in mice.•Neuropathological examination reveals absence of MATR3 or TDP-43 pathology in the mutant mice.