Murine model of triosephosphate isomerase deficiency with anemia and severe neuromuscular dysfunction.

ABSTRACT: Triosephosphate isomerase deficiency (TPI Df) is a rare, aggressive genetic disease that typically affects young children and currently has no established treatment. TPI Df is characterized by hemolytic anemia, progressive neuromuscular degeneration, and a markedly reduced lifespan. The disease has predominately been studied using invertebrate and in vitro models, which lack key aspects of the human disease. While other groups have generated mammalian Tpi1 mutant strains, specifically with the mouse mus musculus, these do not recapitulate key characteristic phenotypes of the human disease. Reported here is the generation of a novel murine model of TPI Df. CRISPR-Cas9 was utilized to engineer the most common human disease-causing mutation, Tpi1 ^E105D<

SUBMITTER: Myers TD 

PROVIDER: S-EPMC9673098 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature