Ullrich-like muscular dystrophy / UCMD (COL6A1-related) - Landseer

What does this test examine?

This genetic test examines the COL6A1 variant c.289G>T in the Landseer. The test is used for Ullrich-like muscular dystrophy / UCMD. The condition is also known as Ullrich congenital muscular dystrophy, COL6A1-related muscular dystrophy, collagen VI-related muscular dystrophy and MD.

What does this condition mean?

COL6A1 encodes a component of collagen VI. The tested nonsense variant disrupts collagen VI formation and causes a severe early-onset muscle disease in the Landseer. Affected dogs develop progressive muscle weakness from a young age, and the disorder is severe enough to lead to death or euthanasia within the first year of life.

Practical value of this test

For Landseer breeders, this test is essential because carriers can appear healthy. The result makes it possible to avoid carrier-to-carrier matings while managing genetic diversity responsibly.

• Shows clearly whether a dog is clear, carries the tested variant or is genetically affected.
• Supports targeted breeding plans and helps avoid matings with an increased risk of affected puppies.
• Helps breeders manage carriers or positive animals responsibly without unnecessarily losing valuable lines.
• Gives owners and veterinarians concrete genetic information when muscle weakness, delayed growth, abnormal gait or muscle atrophy occurs in a line.

Result and inheritance

This condition is inherited in an autosomal recessive manner. A dog with G/G does not carry the variant. A dog with G/T is a carrier. A dog with T/T has the genotype that causes COL6A1-related Ullrich-like muscular dystrophy.