ArticleCell death & disease2018
Development of muscular dystrophy in a CRISPR-engineered mutant rabbit model with frame-disrupting ANO5 mutations.
Article in Cell death & disease, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Sex differences in the involvement of skeletal and cardiac muscles in myopathicAmerican journal of physiology. Cell physiology · 2022Pooled it
- Recent insights into limb-girdle muscular dystrophy: Impacts, therapy, and challenges.Histology and histopathology · 2025Review
- Genome-edited rabbits: Unleashing the potential of a promising experimental animal model across diverse diseases.Zoological research · 2024Review
- The history, use, and challenges of therapeutic somatic cell and germline gene editing.Fertility and sterility · 2023Review
- Regulation of phospholipid distribution in the lipid bilayer by flippases and scramblases.Nature reviews. Molecular cell biology · 2023Review
- Article
- TMEM16E regulates endothelial cell procoagulant activity and thrombosis.The Journal of clinical investigation · 2023Article
- ANO5-related muscle diseases: From clinics and genetics to pathology and research strategies.Genes & diseases · 2022Review
- Review
- Ano5 modulates calcium signaling during bone homeostasis in gnathodiaphyseal dysplasia.NPJ genomic medicine · 2022Article
- Article
- Genetically Modified Rabbits for Cardiovascular Research.Frontiers in genetics · 2021Review
- Gene Editing in Rabbits: Unique Opportunities for Translational Biomedical Research.Frontiers in genetics · 2021Review
- Anoctamin 5 Knockout Mouse Model Recapitulates LGMD2L Muscle Pathology and Offers Insight Into in vivo Functional Deficits.Journal of neuromuscular diseases · 2021Article
- Genome engineering technologies in rabbits.Journal of biomedical research · 2020Article
- CRISPR-Cas systems: Overview, innovations and applications in human disease research and gene therapy.Computational and structural biotechnology journal · 2020Review
- The Absence of Calponin 2 in Rabbits Suggests Caution in Choosing Animal Models.Frontiers in bioengineering and biotechnology · 2020Article
- Dysregulated calcium homeostasis prevents plasma membrane repair in Anoctamin 5/TMEM16E-deficient patient muscle cells.Cell death discovery · 2019Article
- Anoctamin 5/TMEM16E facilitates muscle precursor cell fusion.The Journal of general physiology · 2018Article
Corrections and comments
- Erratum issued
Authors and funding
9 authors.
Funding
Abstract
Limb girdle muscular dystrophy type 2L (LGMD2L) and Miyoshi myopathy type 3 (MMD3) are autosomal recessive muscular dystrophy caused by mutations in the gene encoding anoctamin-5 (ANO5), which belongs to the anoctamin protein family. Two independent lines of mice with complete disruption of ANO5 transcripts did not exhibit overt muscular dystrophy phenotypes; instead, one of these mice was observed to present with some abnormality in sperm motility. In contrast, a third line of ANO5-knockout (KO) mice with residual expression of truncated ANO5 expression was reported to display defective membrane repair and very mild muscle pathology. Many of the ANO5-related patients carry point mutations or small insertions/deletions (indels) in the ANO5 gene. To more closely mimic the human ANO5 mutations, we engineered mutant ANO5 rabbits via co-injection of Cas9 mRNA and sgRNA into the zygotes. CRISPR-mediated small indels in the exon 12 and/or 13 in the mutant rabbits lead to the development of typical signs of muscular dystrophy with increased serum creatine kinase (CK), muscle necrosis, regeneration, fatty replacement and fibrosis. This novel ANO5 mutant rabbit model would be useful in studying the disease pathogenesis and therapeutic treatments for ANO5-deficient muscular dystrophy.
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Registered trials
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