huDMPK/huTFRC Mouse
Product Name
huDMPK/huTFRC Mouse
Product ID
C002012
Strain Name
C57BL/6NCya-Dmpktm1(hDMPK)Tfrctm2(hTFRC)/Cya
Backgroud
C57BL/6NCya
Status
When using this mouse strain in a publication, please cite “huDMPK/huTFRC Mouse (Catalog C002012) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
Gene Name
DMPK & TFRC
Gene Alias
DM, DM1, DMK, MDPK, DM1PK, MT-PK, T9, TR, TFR, p90, CD71, TFR1, TRFR, IMD46
NCBI ID
Chromosome
Chr 19 (Human), Chr 3 (Human)
Datasheet
Strain Description
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.
Reference
Liu J, Guo ZN, Yan XL, Yang Y, Huang S. Brain Pathogenesis and Potential Therapeutic Strategies in Myotonic Dystrophy Type 1. Front Aging Neurosci. 2021 Nov 15;13:755392.
Strain Strategy
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).
Figure 1. Diagram of the gene editing strategy for the generation of huDMPK mice. The sequences upstream of exon 1 to intron 10 of the mouse Dmpk gene were replaced with the sequences from upstream of exon 1 to downstream of the human DMPK gene.
Figure 2. Gene editing strategy of huTFRC mice. The mouse Tfrc endogenous extracellular domain was replaced with the human TFRC extracellular domain. The murine cytoplasmic and helical regions were kept.
Application Area
Screening, pharmacodynamic evaluation, safety assessment, and mechanism-of-action studies of dual-target therapeutics against DMPK/TFRC;
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.
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