Muscular Dystrophy Mouse Models
Since 1998, ingenious targeting laboratory has supported muscular dystrophy research with mouse model generation enabling mechanistic studies of muscle degeneration, testing gene therapy approaches, and developing therapeutic interventions for Duchenne muscular dystrophy and related myopathies.
Muscular dystrophy mouse models provide essential platforms for investigating molecular pathways underlying muscle wasting and testing exon skipping strategies and gene replacement therapies.
Duchenne Muscular Dystrophy Models
mdx Mouse
Point mutation in exon 23 creating premature stop codon. Complete absence of full length dystrophin. Standard model for preclinical studies.
- Milder than human DMD due to compensatory utrophin
- Elevated CK and muscle regeneration
- Widely used for baseline studies
mdx/utrophin Double Knockout
Elimination of both dystrophin and utrophin produces severe muscular dystrophy with shortened lifespan, closely modeling human DMD severity.
- Severe phenotype matching human disease
- Shortened lifespan
- Optimal for therapeutic testing
Humanized DMD Models
hDMDTg mice carrying full length human DMD gene enable testing of human specific therapies including exon skipping oligonucleotides.
- Human sequence for ASO testing
- Exon skipping validation
- Clinical translation studies
Phenotyping Muscular Dystrophy Models
Functional Assessment
- •Grip strength (forelimb/hindlimb)
- •Rotarod (motor coordination)
- •Treadmill endurance
- •Voluntary wheel running
Pathological Assessment
- •H&E staining (centralized nuclei, necrosis)
- •Fibrosis (Sirius red/trichrome)
- •IHC for dystrophin complex
Biomarkers Assessment
- •Serum creatine kinase (CK)
- •Cardiac troponin
- •Myoglobin
Cardiac Assessment
- •Echocardiography
- •ECG
- •Hemodynamics
Therapeutic Applications
Gene Therapy
- •AAV microdystrophin delivery
- •Utrophin upregulation
- •Dual/triple vector strategies
Exon Skipping
- •Antisense oligonucleotides
- •Eteplirsen class drugs
- •Human sequence specific ASOs
Cell Based
- •Satellite cell transplantation
- •iPSC derived myocytes
- •Patient specific approaches
What Researchers Say
“iTL produced a new conditional mouse model for us and the quality of service was exceptional. The team is extremely knowledgeable and the work was completed at the highest possible standards. My project manager was excellent and always happy to answer technical questions and keep me up to date with progress and potential problems. I would recommend iTL highly and will use them again in the future if I need to generate a new mouse line.”
— Albert Basson, PhD
King's College London
Frequently asked questions
Muscular Dystrophy Mouse Models
Since 1998, ingenious targeting laboratory has supported muscular dystrophy research with mouse model generation enabling mechanistic studies of muscle degeneration, testing gene therapy approaches, and developing therapeutic interventions for Duchenne muscular dystrophy and related myopathies.
Muscular dystrophy mouse models provide essential platforms for investigating molecular pathways underlying muscle wasting and testing exon skipping strategies and gene replacement therapies.
Duchenne Muscular Dystrophy Models
mdx Mouse
Point mutation in exon 23 creating premature stop codon. Complete absence of full length dystrophin. Standard model for preclinical studies.
- Milder than human DMD due to compensatory utrophin
- Elevated CK and muscle regeneration
- Widely used for baseline studies
mdx/utrophin Double Knockout
Elimination of both dystrophin and utrophin produces severe muscular dystrophy with shortened lifespan, closely modeling human DMD severity.
- Severe phenotype matching human disease
- Shortened lifespan
- Optimal for therapeutic testing
Humanized DMD Models
hDMDTg mice carrying full length human DMD gene enable testing of human specific therapies including exon skipping oligonucleotides.
- Human sequence for ASO testing
- Exon skipping validation
- Clinical translation studies
Phenotyping Muscular Dystrophy Models
Functional Assessment
- •Grip strength (forelimb/hindlimb)
- •Rotarod (motor coordination)
- •Treadmill endurance
- •Voluntary wheel running
Pathological Assessment
- •H&E staining (centralized nuclei, necrosis)
- •Fibrosis (Sirius red/trichrome)
- •IHC for dystrophin complex
Biomarkers Assessment
- •Serum creatine kinase (CK)
- •Cardiac troponin
- •Myoglobin
Cardiac Assessment
- •Echocardiography
- •ECG
- •Hemodynamics
Therapeutic Applications
Gene Therapy
- •AAV microdystrophin delivery
- •Utrophin upregulation
- •Dual/triple vector strategies
Exon Skipping
- •Antisense oligonucleotides
- •Eteplirsen class drugs
- •Human sequence specific ASOs
Cell Based
- •Satellite cell transplantation
- •iPSC derived myocytes
- •Patient specific approaches
What Researchers Say
“iTL produced a new conditional mouse model for us and the quality of service was exceptional. The team is extremely knowledgeable and the work was completed at the highest possible standards. My project manager was excellent and always happy to answer technical questions and keep me up to date with progress and potential problems. I would recommend iTL highly and will use them again in the future if I need to generate a new mouse line.”
— Albert Basson, PhD
King's College London
