Ullrich Congenital Muscular Dystrophy
Congenital muscular dystrophies associated with independent mutations in the collagen VI gene has been identified in families of American Staffordshire Terrier and Labrador Retriever dogs. At 4 months of age, clinical signs including angular limb deformities and carpal and tarsal contractures were present. Serum creatine kinase activity was persistently elevated. Histopathology of muscle biopsies showed a dystrophic phenotype and immunohistochemical stainings of fibroblasts and muscle showed an absence of staining for collagen VI.
Research carried out at the University of Minnesota, the National Institutes of Health, and the University of California San Diego – Comparative Neuromuscular Laboratory has identified independent pathogenic mutations in the collagen VI gene with an autosomal recessive manner of inheritance.
We are now offering genetic tests which allows owners to determine their dog’s status for these mutations in order to diagnose affected dogs and to guide future breeding decisions.
For puebred dogs, we recommend testing for the breed-specific collagen VI mutation.
Scientific References
Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs
Bolduc V, Minor KM, et al. (2020)
Neuromuscular Disorders, doi: 10.1016/j.nmd.2020.03.005
Contact Us
Canine Genetics Lab
University of Minnesota
1988 Fitch Ave
AS/VM 295
St. Paul, MN 55108
[email protected]
612.624.5322
z.umn.edu/caninegenetics
Fees & Payment
- 1-3 Dogs - $65 ea.
- 4 or more - $58 ea.
Need cheek swabs? Cheek swabs are not included in the purchase price. Links to several purchasing options are available within the cheek swab protocol.