Transcriptomics

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


ABSTRACT: 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.

ORGANISM(S): Mus musculus

PROVIDER: GSE172286 | GEO | 2023/12/21

REPOSITORIES: GEO

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