The Next Generation of Mouse Model Preparation Platform
DMDhE50delE51
| Strain Name | C57BL/6N-DMD<sup>hE50delE51</sup>/MCL |
|---|
Preclinical evaluation of gene therapy drugs
Monitoring of disease pathophysiology progression
Pharmacokinetic/pharmacodynamic (PK/PD) studies
Mechanism research on novel therapeutic strategies
Screening and validation of biomarkers
The model is a partially humanized knock-in mouse established on the classic C57BL/6N inbred background, replacing mouse exon 50 with human exon 50 while simultaneously deleting mouse exon 51. By precisely deleting the endogenous mouse exon 50 (mE50), it accurately models the most common exon 50–51 deletion mutation in human Duchenne muscular dystrophy (DMD). This modification disrupts the open reading frame and introduces a premature termination codon downstream of the humanized exon, resulting in the failure to synthesize full-length, functional dystrophin. Consequently, the model stably recapitulates the typical pathological features of human DMD, including progressive muscle atrophy, myofiber necrosis and fibrosis, as well as significantly elevated serum creatine kinase (CK) levels, making it an ideal preclinical model for investigating DMD pathogenesis and evaluating gene therapy strategies.
High simulation of clinical common mutations: Accurately replicates the most frequent exon 50-51 region deletion hotspot in human DMD patients. By introducing a frameshift mutation and a premature termination codon to disrupt the open reading frame, it is closer to the clinical pathological root cause at the molecular mechanism level than simple gene knockout.
Equipped with humanized therapeutic targets: The model’s genome integrates the human DMD gene exon 50 (hE50) sequence, and both its DNA and mRNA transcripts contain human-specific base compositions. It can be directly used to evaluate the efficacy and off-target risks of antisense oligonucleotides (ASO), RNA editing, or CRISPR gene editing therapies designed for human sequences, overcoming the limitation of traditional $mdx$ mice which cannot validate human-targeted drugs due to sequence differences.
Stable background and typical phenotype: Established on the classic C57BL/6N inbred background, featuring a clear and uniform genetic background, small individual variations, and good experimental reproducibility. Furthermore, due to the complete absence of full-length Dystrophin protein, it exhibits typical DMD pathological features such as obvious muscle atrophy, fibrosis, myofiber necrosis, and elevated serum CK, which is superior to the milder natural $mdx$ model.
Convenient and intuitive genotyping: Wild-type, heterozygous, and homozygous mice can be distinguished through simple PCR amplification (704 bp humanized band vs. 1375 bp wild-type band). Combined with Sanger sequencing, it can rapidly verify the cross-fusion of mouse and human exons and the introduction of the termination codon, facilitating breeding management and experimental group screening.
Applicable to multi-dimensional mechanism research: It can be used for the histopathological evaluation of skeletal and cardiac muscles, as well as for evaluating multi-level pharmacodynamic endpoints such as exon skipping efficiency, protein restoration levels, and motor function improvement, serving as an ideal preclinical platform connecting basic research and clinical translation.
FAQ
Game-changing benefits？
While competitors highlight germline efficiency gains, shorter timelines and enhanced 3Rs animal welfare benefits for their technologies, these are merely incremental improvements over traditional approaches. In sharp contrast, our proprietary technology delivers fully pure, homogeneous lineages—every single cell of the mice is derived exclusively from totipotent ES cells, with guaranteed 100% germline transmission efficiency. To experience these unparalleled benefits firsthand, enquire about your custom mouse model project with us or order embryos for in-house validation at your facility.
How much for a project assessment?
•Free initial design proposal with zero obligations.
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Who owns the mouse lP? Do l need a licence from Mingceler?
All model generation projects of Mingceler operate under a fee-for-service framework.
IP Ownership: All intellectual property rights related to custom mouse models, including derived organs, tissues, cells, and biological materials, are the sole and exclusive property of the Client.
Third-Party Transfer Permission: The Client may independently decide to retain, utilize, or commercialize their custom models project materials (e.g., targeting vectors, ES cells, mouse lines) without the need for prior consent from Mingceler.
Licensing Exemption: The Client has full autonomy over all uses of the custom models or their derivatives, including but not limited to commercialization, distribution to third parties, and publication involving model data. No written license from Mingceler is required for such uses.