P320 VMA21 conditional knockout mice model XMEA with myopathy and dysfunctional autophagy

X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive disorder caused by mutations in the vacuolar membrane ATPase activity 21 (VMA21) gene, which is necessary for vacuolar ATPase assembly in the lysosomal lumen. This defect leads to de-acidified lysosomes and vacuolar pathology. XMEA affects only males, with females being carriers. At present, no mouse models of XMEA have been reported. We generated VMA21 floxed mice using CRISPR/Cas9. These mice were crossed to mice expressing CreERT2 under an HSA promoter to generate VMA21 muscle-specific knockout mice.

Source: Neuromuscular Disorders - October 1, 2023 Category: Neurology Authors: M. Inoue, S. Pittman, A. Findlay, C. Weihl Source Type: research