huDMPK Mouse
Product Name
huDMPK Mouse
Product ID
C001882
Strain Name
C57BL/6NCya-Dmpktm1(hDMPK)/Cya
Backgroud
C57BL/6NCya
Status
When using this mouse strain in a publication, please cite “huDMPK Mouse (Catalog C001882) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
Gene Name
DMPK
Gene Alias
DM, DM1, DMK, MDPK, DM1PK, MT-PK
NCBI ID
Chromosome
Chr 19 (Human)
MGI ID
Datasheet
Strain Description
The DMPK gene provides instructions for producing dystrophia myotonica protein kinase, a serine/threonine kinase that is primarily expressed in skeletal muscle, cardiac muscle, and the central nervous system, with lower levels found in smooth muscle and other tissues. This protein serves as a critical regulator of cellular processes, including the maintenance of muscle structure, ion channel gating (specifically sodium and calcium channels), and intracellular signaling pathways related to cytoskeletal dynamics and mitochondrial health. The gene is famously associated with Myotonic Dystrophy Type 1 (DM1), a multisystemic disorder caused by an unstable CTG trinucleotide repeat expansion in the 3' untranslated region (3'UTR) [1]. In healthy individuals, this sequence repeats between 5 and 37 times, but pathogenic expansions exceeding 50 repeats—sometimes reaching thousands—lead to the production of toxic "gain-of-function" RNA [2]. This mutant RNA accumulates in nuclear foci, sequestering critical splicing proteins (like MBNL1) and resulting in a wide array of clinical features, including progressive muscle wasting, myotonia (the inability to relax muscles), cardiac conduction defects, cataracts, and endocrine dysfunctions such as insulin resistance [3].
The huDMPK mouse is a humanized model constructed through gene-editing technology, in which the sequences upstream of exon 1 to intron 10 of the mouse Dmpk gene are replaced with the sequences from upstream of exon 1 to downstream of the human DMPK gene. This model can be used for research on Myotonic Dystrophy Type 1 (DM1), cardiac conduction defects, cataracts, and endocrine dysfunctions such as insulin resistance, as well as for screening, development, and preclinical evaluation of DMPK-targeted therapeutics.
Reference
Overby SJ, Cerro-Herreros E, Llamusi B, Artero R. RNA-mediated therapies in myotonic dystrophy. Drug Discov Today. 2018 Dec;23(12):2013-2022.
Swinkels H, Leferink M, Pennings M, van der Sanden B, Gilissen C, Galbany JC, Kamsteeg EJ. Interrupted CTG repeats in the 37-43 units size range in the 3'UTR of DMPK are common alleles. Eur J Hum Genet. 2025 Nov;33(11):1547-1553.
Jiang H, Mankodi A, Swanson MS, Moxley RT, Thornton CA. Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons. Hum Mol Genet. 2004 Dec 15;13(24):3079-88.
Strain Strategy
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 1. Diagram of the gene editing strategy for the generation of huDMPK mice.
Application Area
Screening, development, and preclinical evaluation of DMPK-targeted drugs;
Research on the pathogenic mechanism and related treatment methods of Myotonic Dystrophy Type 1 (DM1);
Research on cardiac conduction defects;
Research on cataracts;
Research on endocrine dysfunctions, such as insulin resistance.
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