The Gne gene encodes glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase, the key enzyme in the metabolic pathway leading to the synthesis of N-acetylneuraminic acid (Neu5Ac). Homozygous global deletion of Gne in mice results in death by embryonic day 8.5 (E8.5). Mutations in GNE are associated with GNE myopathy a progressive distal and proximal myopathy. These GneM743T knock-in mice carry the M743T (methionine to threonine) mutation (initially designated M712T) one most frequent mutations found in patients with GNE myopathy. One third of mice homozygous for the GneM743T mutation die within a few days of birth from severe renal glomerulopathy, however, the remaining mice remain healthy with no renal or muscular phenotypes although they exhibit an 18% decrease in body weight. Mice heterozygous for the mutation are viable and fertile, surviving homozygotes are fertile.

GneM743T knock-in mice carry a M743T (methionine to threonine) substitution in the Gne (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) gene. Approximately one third of homozygous mice die shortly after birth, the remaining homozygotes survive and do not exhibit renal or muscle phenotypes. This strain may be useful for studying GNE myopathy.

This strain is hosted by NIH's MMRRC, which partners with JAX for the distribution of this and other strains. For additional information and to purchase, please visit the MMRRC site.