Hereditary ataxia / HA (HACE1-related) - Black Norwegian Elkhound

What does this test examine?

This genetic test analyses the HACE1 variant c.1001delG for HACE1-related hereditary ataxia in the Black Norwegian Elkhound. The condition is also known as hereditary ataxia, HA, HACE1-related ataxia, ataxia in the Black Norwegian Elkhound. The test shows whether the dog is clear, a carrier or has two copies of the tested variant.

What does this condition mean?

HACE1 is involved in cellular protein regulation. The tested deletion changes the reading frame of the gene and disrupts normal protein function, which primarily affects the nervous system and motor coordination.

Affected dogs can develop progressive ataxia, uncoordinated movement, tremor, a wide-based gait and difficulty controlling movement. The disorder is important for breeding because carriers are usually outwardly normal.

Practical value of this test

• reveals hidden carriers before they are used in breeding combinations
• helps avoid carrier-to-carrier matings and reduces the risk of puppies with neurological disease
• gives breeders concrete information to manage valuable lines responsibly
• supports targeted selection, litter planning and clear communication with puppy buyers or breed organisations
• can help recognise an inherited cause more quickly in young dogs with coordination problems

Who benefits from this test?

The test is especially valuable for breeders working with related lines, owners who want to know the genetic status of a breeding dog and veterinarians who want to place ataxia signs in a clearer genetic context. Knowing the result before mating allows a healthy carrier to be used responsibly without unintentionally producing affected puppies.

Inheritance and result

The condition is inherited as autosomal recessive. A dog without the variant will not pass on this specific variant. A carrier usually has no clear symptoms, but can pass the variant on. A dog with two copies develops the tested hereditary ataxia condition for this variant.