<i>COL6A1</i> related muscular dystrophy in Landseer dogs: A canine model for Ullrich congenital muscular dystrophy

Abstract Background Collagen VI related myopathies are congenital diseases of variable phenotype. The severe phenotype is referred to as Ullrich muscular dystrophy. In this study, we describe analoguos clinical signs and histopathological alterations in Landseer dogs. Materials We collected data from two affected dogs investigated the neuromuscular changes five different litters with immunohistochemistry immunofluorescence. All were homozygous for p.Glu97* nonsense variant COL6A1 gene encoding alpha‐1 chain collagen VI. Results Muscle biopsies revealed similar those human patients dystrophy including virtual absence skeletal muscles. Conclusions pathological characterization enhances value animal model