This study explored the impact of specific Mrps5 point mutations (V338Y and G315R) on mitochondrial ribosome fidelity. The V338Y mutation resulted in mitoribosomal misreading, impaired mitochondrial function, altered behavior, and accelerated age-related phenotypes. The G315R mutation showed no pathological effect.
V338Y mutation causes mitoribosomal misreading and physiological dysfunction; G315R does not, highlighting mutation-specific impacts on mitochondrial translation.
Knockin mouse models with Mrps5 point mutations V338Y and G315R, developed by genOway to mimic human mitochondrial ribosomal protein polymorphisms.
Aging, Mitochondrial disorders, Neurobehavior, Hearing loss, Ribosomal fidelity
Knockin, Point mutation, FLEx technology, Mitoribosome, Translation accuracy
From model design to experimental results
Tailor-made solutions adapted to scientific questions
Comprehensive dataset package
Generated with biopharma partners and in-house
Scientific follow-up and advice along the project
Collaborative approach for problem solving and development of innovative models
Breeding facilities in US and Europe
Certified health status from professional breeders
