title: Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy.
abstract: To gain insight into the function of type VI collagen, the col6a1 gene was inactivated by targeted gene disruption in the mouse. The homozygous mutants lacked collagen VI in the tissues and showed histological features of myopathy such as fiber necrosis and phagocytosis and a pronounced variation in the fiber diameter. Muscles also showed signs of stimulated regeneration of fibers. Necrotic fibers were particularly frequent in the diaphragm at all ages examined. Similar, although milder, alterations were detected in heterozygous mutant mice, indicating haploinsufficiency of the col6a1 gene function. The data led us to conclude that collagen VI is necessary for maintenance of the integrity of muscle fibers and that the col6a1 -deficient mouse can be considered an animal model of Bethlem myopathy.
authors.affiliation: Institute of Histology and Embryology, University of Padova, Via G. Colombo 3, 35100 Padova, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Bonaldo
authors.forename: P
authors.initials: P
authors.lastname: Braghetta
authors.forename: M
authors.initials: M
authors.lastname: Zanetti
authors.forename: S
authors.initials: S
authors.lastname: Piccolo
authors.forename: D
authors.initials: D
authors.lastname: Volpin
authors.forename: G M
authors.initials: GM
authors.lastname: Bressan
mesh_terms: D000818:Animals; D003094:Collagen / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics; D004195:Disease Models, Animal; D005260:Female; D005455:Fluorescent Antibody Technique; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D008815:Mice, Inbred Strains; D018345:Mice, Knockout; D018482:Muscle, Skeletal / Q000002:abnormalities / Q000737:chemistry / Q000378:metabolism; D009135:Muscular Diseases / Q000235:genetics / Q000378:metabolism*; D016297:Mutagenesis, Site-Directed; D017434:Protein Structure, Tertiary; D013997:Time Factors
chemical_list: D003094:Collagen