Duchenne Muscular Dystrophy (DMD) Animal Model Service
Animal models of Duchenne muscular dystrophy (DMD) are important preclinical research tools, enabling mechanistic investigation and therapeutic development for this devastating neuromuscular disease. Building on pioneering research in DMD, Protheragen leads the development of cutting-edge animal models, delivering fully customized solutions to meet the specific needs of your research.
Overview of Duchenne Muscular Dystrophy (DMD) Animal Models
Animal models are essential tools for studying Duchenne muscular dystrophy (DMD). DMD is a severe genetic disease caused by mutations in the DMD gene, resulting in dystrophin deficiency. These models, including the widely used mdx mouse and DMD-modified larger species, recapitulate key pathological features such as progressive muscle degeneration, chronic inflammation, and functional impairment. They provide a crucial platform for studying disease mechanisms, evaluating dystrophin restoration therapies, and assessing functional recovery, thereby accelerating the development of effective DMD therapies.
Fig.1 Characteristics of the mdx mouse model of Duchenne muscular dystrophy (DMD). (Delaney R, O'Halloran K D., 2024)
Methods of Duchenne Muscular Dystrophy (DMD) Animal Model Development
The development of animal models for Duchenne muscular dystrophy (DMD) relies on advanced genetic engineering techniques to disrupt or modify the DMD gene, thereby replicating the loss of functional dystrophin protein—the hallmark of DMD pathology.
Transgenic Method
Transgenic models are created by introducing foreign DNA (usually a human DMD gene carrying a specific mutation) into the animal genome using microinjection or viral vectors. These models overexpress truncated or mutant dystrophin proteins, allowing researchers to study dominant-negative effects, protein function, and compensatory mechanisms in vivo.
Targeted Gene Editing
Targeted gene editing allows for precise modifications directly within the endogenous Duchenne muscular dystrophy (DMD) locus, such as exon deletions, point mutations, or gene knock-ins. This approach can recapitulate patient-specific mutations in species such as mouse, rat, and pig, enabling accurate dystrophin depletion and reliable phenotypic analysis.
Our Services
As a leader in rare muscle disease research, Protheragen offers comprehensive and highly specialized animal model development services for Duchenne muscular dystrophy (DMD). Our expertise in genetic engineering and phenotyping enables us to provide reliable, well-characterized, and customizable models that accurately recapitulate the complex pathophysiology of DMD, providing valuable tools for your mechanistic studies and preclinical efficacy testing.
Animal Models of Duchenne Muscular Dystrophy (DMD)
| Model Name | Model Type | Detailed Description |
| Dmd-Q995X Mice | GEMMs | These mice carry a p.Q995X mutation in DMD gene. |
| B6-hDMD (E44-45) Mice | Humanized Animal Models | The B6-hDMD (E44-45) mouse is a model with humanized exons 44–45 of the DMD gene and can be used for research on Duchenne muscular dystrophy (DMD). Homozygous individuals of this model are viable and fertile. |
| B6-hDMD (E44-45) *Del E44 Mice | Humanized Animal Models | The B6-hDMD (E44-45) *DelE44 mouse is a humanized model of the DMD gene. The base sequence of exons 44-45 and the flanking regions of the mouse DMD gene is replaced by the base sequence of exon 45 and its flanking regions of the human DMD gene (that is, exon 44 of the human DMD gene is deleted), and it is suitable for research on Duchenne muscular dystrophy (DMD). |
| B6-hDMD (E49-53) Mice | Humanized Animal Models | The B6-hDMD (E49-53) mouse is a model with the humanized exons 49-53 of the DMD gene and can be used for research on Duchenne muscular dystrophy (DMD). The homozygous individuals of this model are viable and fertile. |
| B6-hDMD (E8-30) Mice | Humanized Animal Models | The B6-hDMD (E8-30) mouse is a mouse model with the humanized exon 8-30 region of the DMD gene, covering the 5' end region of the mutation hotspot of the human DMD gene, and can be used for research on Duchenne muscular dystrophy (DMD). |
| B6-hTFRC/hDMD (E49-53) Mice | Humanized Animal Models | The B6-hTFRC/hDMD (E49-53) mouse is a humanized model obtained by mating the B6-hTFRC (CDS) mouse with the B6-hDMD (E49-53) mouse. It can be used for research on iron metabolism disorders, Duchenne muscular dystrophy (DMD), neurodegenerative diseases, and tumorigenesis and development, facilitating the research and development of TFRC/DMD-targeted drugs and pre-clinical pharmacological and pharmacodynamic evaluations. |
| B6-hTFRC/hDMD (E8-30) Mice | Humanized Animal Models | The B6-hTFRC/hDMD (E8-30) mouse is a humanized model obtained by mating the B6-hTFRC (CDS) mouse with the B6-hDMD (E8-30) mouse. It can be used for research on iron metabolism disorders, Duchenne muscular dystrophy (DMD), neurodegenerative diseases, and tumorigenesis and development, facilitating the research and development of TFRC/DMD-targeted drugs and pre-clinical pharmacological and pharmacodynamic evaluations. |
| B6-hTFRC/hDMD (E44-45) Mice | Humanized Animal Models | The B6-hTFRC/hDMD (E44-45) mouse is a humanized model obtained by mating the B6-hTFRC (CDS) mouse with the B6-hDMD (E44-45) mouse. It can be used for research on iron metabolism disorders, Duchenne muscular dystrophy (DMD), neurodegenerative diseases, and tumorigenesis and development, facilitating the research and development of TFRC/DMD-targeted drugs and pre-clinical pharmacological and pharmacodynamic evaluations. |
| DMD-Q995* Mice | GEMMs | The DMD-Q995* mouse model carries the c.2983C>T (p.Q995*) mutation in the DMD gene, which introduces a premature termination codon (PTC). The nonsense-mediated mRNA decay (NMD) mechanism in eukaryotes degrades abnormal mRNAs containing PTCs to prevent potentially harmful gain-of-function or dominant-negative effects from truncated proteins, thereby reducing transcriptional errors that could disrupt normal physiological functions. This mutation, combined with the NMD mechanism in mice, leads to the degradation of most DMD transcripts in DMD-Q995* mice, with the remaining transcripts encoding only a truncated dystrophin protein lacking normal function, resulting in dystrophin deficiency. This model exhibits a series of muscle disease phenotypes clinically similar to Duchenne muscular dystrophy (DMD) due to the absence of functional dystrophin expression, making it suitable for DMD research. Both homozygous females and hemizygous males of this strain are viable and fertile. |
| B6-Dmd Del52 Mice | GEMMs | This model carries a deletion of exon 52, making it a crucial tool for testing exon-skipping therapies aimed at restoring the reading frame for patients with mutations amenable to skipping exon 51. |
| Dmd-C3197T Mice | GEMMs | This point mutation model introduces a nonsense (C-to-T) mutation, creating a premature stop codon that disrupts dystrophin expression and is ideal for studying nonsense-mediated decay and testing read-through compounds. |
| B6-Dmd Del51 Mice | GEMMs | Featuring a targeted deletion of exon 51, this strain is a standard preclinical model for evaluating the efficacy of exon-skipping treatments designed for patients with mutations that can be corrected by skipping exon 51. |
| B6-Dmd Del45 Mice | GEMMs | With exon 45 deleted, this model is highly relevant for developing and testing exon-skipping strategies that target skipping exon 44 for a large subset of DMD patients. |
| B10-Dmd-KO Mice | GEMMs | This is a complete dystrophin-null model on a C57BL/10 background, characterized by a severe progressive muscular dystrophy phenotype that is ideal for foundational pathophysiological studies and gene replacement therapy assessment. |
| B6-Dmd Del50 Mice | GEMMs | This model carries a deletion of exon 50 and is primarily used in the development of exon-skipping therapies that aim to skip exon 51 to restore the reading frame. |
Case Study-DMD Rat Model
- Species: Rats from the Wistar-Imamichi strain.
- Modeling Method: Using gene-editing technology, our scientists have developed a rat model with an out-of-frame mutation in DMD from the Wistar-Imamichi strain. The established DMD rats have mutations in exon3 and exon16 in DMD (cDNA sequence; exon3 del, exon16: c.19491950 insT, c.19521953 CG > AT). The rat model exhibits more severe skeletal muscle damage and cardiomyopathy than the traditional mdx mouse model.
Fig.2 Cardiac histopathological analysis showed: (A) the ratio of quantified fibrotic area was significantly increased in DMD rats compared to wild-type (WT) rats. (B) Additionally, the ratio of whole heart weight divided by body weight (BW) was slightly increased in DMD rats compared to WT rats.
Protheragen takes pride in delivering comprehensive preclinical research services for rare muscular diseases through the development of advanced and tailored animal models. If you are interested in our animal model development services, please do not hesitate to contact us for more details and quotation information.
Reference
- Delaney R, O'Halloran K D. Respiratory performance in Duchenne muscular dystrophy: Clinical manifestations and lessons from animal models[J]. Experimental Physiology, 2024, 109(9): 1426-1445.