Alpha-mannosidosis / AMD (MAN2B1-related) - Doberman

What does this test examine?

This genetic test examines the MAN2B1 c.311A>G variant in Dobermans. The condition is called alpha-mannosidosis or AMD.

What does this mean for the dog?

MAN2B1 encodes alpha-mannosidase, an enzyme that helps lysosomes break down mannose-rich compounds. Dogs with two copies of the variant can develop a severe metabolic disease that mainly affects the nervous system. Reported signs include ataxia, loss of coordination, tremors, strabismus, nosebleeds, behavioural change, compulsive circling and progressive neurological decline.

Practical value of this test

• The test distinguishes clear dogs, carriers and genetically affected dogs.
• Breeders can identify carriers and avoid pairings that may produce affected puppies.
• In Dobermans, the result supports targeted selection against a severe inherited lysosomal storage disease.

The condition is inherited as an autosomal recessive trait. One copy makes a dog a carrier; two copies cause alpha-mannosidosis.