Mars2 deficiency in mouse leads to activation of the type I interferon response

Recessive single-nucleotide mutations in MARS2 are causative for a mitochondrial translation deficiency disorder with a primary phenotype including developmental delay, sensorineural hearing loss, and hypotonia. We generated a mouse model of MARS2 deficiency by introduction of the p.R135W mutation, the sequence homolog of the human p.R142W mutation. 6 samples from gastrocnemius muscle (3 WT and 3 Mars2R135W/R135W) and 6 samples from liver (3 WT and 3 Mars2R135W/R135W) were analyzed.