huDMPK/huTFRC Mouse

Myotonic dystrophy type 1 (DM1) is a multi-system rare disease, with the DMPK gene serving as its pathogenic target. Patients exhibit highly diverse clinical manifestations across multiple systems, primarily including peripheral skeletal muscle atrophy, myocardial conduction abnormalities, insulin resistance, as well as central nervous system (CNS) complications (such as cognitive impairment and hypersomnia) ^[1]. Transferrin receptor 1 (TFRC) features a distinct expression and tissue distribution profile in vivo, serving as a critical receptor vehicle for the peripheral and central targeted delivery of current nucleic acid therapeutics. In the peripheral system, TFRC is highly expressed on the surface of skeletal muscle and myocardial cells, and has been successfully utilized to develop antibody-oligonucleotide conjugates (e.g., AOC 1001) designed for targeted DMPK silencing in muscles; in the central nervous system, TFRC is expressed on brain capillary endothelial cells, making it a core target for studying receptor-mediated transcytosis (RMT) across the blood-brain barrier (BBB).

The huDMPK/huTFRC mouse is a dual-gene humanized model obtained by crossing the huDMPK mouse (Catalog No.: C001882) with the huTFRC mouse (Catalog No.: C001860). This model can be utilized for the screening, pharmacodynamic evaluation, safety assessment, and mechanism-of-action studies of dual-target therapeutics against DMPK/TFRC, as well as comprehensive research on myotonic dystrophy type 1 (DM1) and its associated complications, including muscle atrophy, cardiac conduction abnormalities, insulin resistance, and central nervous system pathology.