ArticlePloS one2020
Detailed genetic and functional analysis of the hDMDdel52/mdx mouse model.
Article in PloS one, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 29 citations in OpenAlex.
- Four new mouse models of Duchenne muscular dystrophy with clinically relevant exon deletions in the human DMD gene.Disease models & mechanisms · 2026Article
- Pharmacological PIK3C2B inhibition rescues XLMTM phenotype in mouse models and identifies molecular markers of disease.JCI insight · 2026Article
- DG9-Conjugated Morpholino-Based Exon 51-Skipping Therapy for Duchenne Muscular Dystrophy.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Characterization of a humanized mouse model of Duchenne muscular dystrophy to support the development of genetic medicines.Disease models & mechanisms · 2025Article
- Understanding Duchenne muscular dystrophy-associated brain pathology.Disease models & mechanisms · 2025Review
- Clinical applications of exon-skipping antisense oligonucleotides in neuromuscular diseases.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Review
- Use of Tricyclo-DNA Antisense Oligonucleotides for Exon-Skipping.Methods in molecular biology (Clifton, N.J.) · 2025Article
- Article
- CRISPR-mediated megabase-scale transgene de-duplication to generate a functional single-copy full-length humanized DMD mouse model.BMC biology · 2024Article
- Respiratory characterization of a humanized Duchenne muscular dystrophy mouse model.Respiratory physiology & neurobiology · 2024Article
- Production of Duchenne muscular dystrophy cellular model using CRISPR-Cas9 exon deletion strategy.Molecular and cellular biochemistry · 2024Article
- Challenges of Assessing Exon 53 Skipping of the HumanNucleic acid therapeutics · 2023Article
- Next Generation Exon 51 Skipping Antisense Oligonucleotides for Duchenne Muscular Dystrophy.Nucleic acid therapeutics · 2023Article
- CRISPR-Editing Therapy for Duchenne Muscular Dystrophy.Human gene therapy · 2023Review
- CRISPR applications for Duchenne muscular dystrophy: From animal models to potential therapies.WIREs mechanisms of disease · 2023Review
- The Dilemma of Choice for Duchenne Patients Eligible for Exon 51 Skipping The European Experience.Journal of neuromuscular diseases · 2023Article
- A humanized knockin mouse model of Duchenne muscular dystrophy and its correction by CRISPR-Cas9 therapeutic gene editing.Molecular therapy. Nucleic acids · 2022Article
- Application of Droplet Digital PCR Technology in Muscular Dystrophies Research.International journal of molecular sciences · 2022Review
- Development of DG9 peptide-conjugated single- and multi-exon skipping therapies for the treatment of Duchenne muscular dystrophy.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Natural History of a Mouse Model Overexpressing the Dp71 Dystrophin Isoform.International journal of molecular sciences · 2021Article
Corrections and comments
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Authors and funding
14 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Duchenne muscular dystrophy (DMD) is a severe, progressive neuromuscular disorder caused by reading frame disrupting mutations in the DMD gene leading to absence of functional dystrophin. Antisense oligonucleotide (AON)-mediated exon skipping is a therapeutic approach aimed at restoring the reading frame at the pre-mRNA level, allowing the production of internally truncated partly functional dystrophin proteins. AONs work in a sequence specific manner, which warrants generating humanized mouse models for preclinical tests. To address this, we previously generated the hDMDdel52/mdx mouse model using transcription activator like effector nuclease (TALEN) technology. This model contains mutated murine and human DMD genes, and therefore lacks mouse and human dystrophin resulting in a dystrophic phenotype. It allows preclinical evaluation of AONs inducing the skipping of human DMD exons 51 and 53 and resulting in restoration of dystrophin synthesis. Here, we have further characterized this model genetically and functionally. We discovered that the hDMD and hDMDdel52 transgene is present twice per locus, in a tail-to-tail-orientation. Long-read sequencing revealed a partial deletion of exon 52 (first 25 bp), and a 2.3 kb inversion in intron 51 in both copies. These new findings on the genomic make-up of the hDMD and hDMDdel52 transgene do not affect exon 51 and/or 53 skipping, but do underline the need for extensive genetic analysis of mice generated with genome editing techniques to elucidate additional genetic changes that might have occurred. The hDMDdel52/mdx mice were also evaluated functionally using kinematic gait analysis. This revealed a clear and highly significant difference in overall gait between hDMDdel52/mdx mice and C57BL6/J controls. The motor deficit detected in the model confirms its suitability for preclinical testing of exon skipping AONs for human DMD at both the functional and molecular level.
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