P2.01 Phenotypic variability of knock in mice carrying the M712T mutation in GNE

Abstract

Mutations in GNE cause hereditary inclusion body myopathy (HIBM), an adult onset, slowly progressive distal and proximal primary myopathy. GNE is well known as the key enzyme for the biosynthesis of sialic acid, but the exact mechanism of the disease is still an enigma. GNE knock out results in lethality of mice embryos at day E8.5. We have generated a knock in mouse by introducing the founder mutation in Middle Eastern HIBM patients, M712T, by homologous recombination.