ArticleThe Journal of biological chemistry2014
A mouse model for dominant collagen VI disorders: heterozygous deletion of Col6a3 Exon 16.
Article in The Journal of biological chemistry, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 49 citations in OpenAlex.
- A collagen VI-dependent pathogenic mechanism for Hirschsprung's disease.The Journal of clinical investigation · 2015Trial
- Redefining the Collagen Composition of Human Fasciae: Emerging Collagen Types and Structural Heterogeneity.International journal of molecular sciences · 2026Article
- Col6a1 knock-in mice provide a promising pre-clinical model for collagen VI-related dystrophies.Disease models & mechanisms · 2026Article
- ETP-specific-knockout mice reveal endotrophin as a key regulator of kidney fibrosis in ischemia-reperfusion injury models.Experimental & molecular medicine · 2025Article
- Development, validation, and preliminary phenotypic characterization of a Col6a3 knockout mouse model targeting exon 3.Animal models and experimental medicine · 2025Article
- Collagen type VI regulates TGF-β bioavailability in skeletal muscle in mice.The Journal of clinical investigation · 2025Article
- Antisense mediated blockade of Dickkopf 1 attenuates tumor survival, metastases and bone damage in experimental osteosarcoma.Scientific reports · 2025Article
- Endotrophin, a Key Marker and Driver for Fibroinflammatory Disease.Endocrine reviews · 2024Review
- A humanized knock-inbioRxiv : the preprint server for biology · 2024Article
- The coordinated activities of collagen VI and XII in maintenance of tissue structure, function and repair: evidence for a physical interaction.Frontiers in molecular biosciences · 2024Article
- Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population.Scientific reports · 2023Article
- Features of Congenital Arthrogryposis Due to Abnormalities in Collagen Homeostasis, a Scoping Review.International journal of molecular sciences · 2023Article
- Autosomal dominant Ullrich congenital muscular dystrophy due to aActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2022Article
- Collagen misfolding mutations: the contribution of the unfolded protein response to the molecular pathology.Connective tissue research · 2022Review
- Collagen VI Regulates Motor Circuit Plasticity and Motor Performance by Cannabinoid Modulation.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2022Article
- Extracellular matrix: Brick and mortar in the skeletal muscle stem cell niche.Frontiers in cell and developmental biology · 2022Review
- Main and Minor Types of Collagens in the Articular Cartilage: The Role of Collagens in Repair Tissue Evaluation in Chondral Defects.International journal of molecular sciences · 2021Review
- Collagen-VI supplementation by cell transplantation improves muscle regeneration in Ullrich congenital muscular dystrophy model mice.Stem cell research & therapy · 2021Article
- Basic Structure, Physiology, and Biochemistry of Connective Tissues and Extracellular Matrix Collagens.Advances in experimental medicine and biology · 2021Article
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
Abstract
Dominant and recessive mutations in collagen VI genes, COL6A1, COL6A2, and COL6A3, cause a continuous spectrum of disorders characterized by muscle weakness and connective tissue abnormalities ranging from the severe Ullrich congenital muscular dystrophy to the mild Bethlem myopathy. Herein, we report the development of a mouse model for dominant collagen VI disorders by deleting exon 16 in the Col6a3 gene. The resulting heterozygous mouse, Col6a3(+/d16), produced comparable amounts of normal Col6a3 mRNA and a mutant transcript with an in-frame deletion of 54 bp of triple-helical coding sequences, thus mimicking the most common molecular defect found in dominant Ullrich congenital muscular dystrophy patients. Biosynthetic studies of mutant fibroblasts indicated that the mutant α3(VI) collagen protein was produced and exerted a dominant-negative effect on collagen VI microfibrillar assembly. The distribution of the α3(VI)-like chains of collagen VI was not altered in mutant mice during development. The Col6a3(+/d16) mice developed histopathologic signs of myopathy and showed ultrastructural alterations of mitochondria and sarcoplasmic reticulum in muscle and abnormal collagen fibrils in tendons. The Col6a3(+/d16) mice displayed compromised muscle contractile functions and thereby provide an essential preclinical platform for developing treatment strategies for dominant collagen VI disorders.
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