Ullrich Congenital Muscular Dystrophy

Labrador RetrieverCongenital 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.

Labrador with muscular dystrophy

American Staffordshire TerrierResearch 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]

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  • 1-3 Dogs - $65 ea.
  • 4 or more - $58 ea.

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