Dilute coat colour with neurological defects (MYO5A-related) - Miniature Dachshund

What does this test examine?

This genetic test analyses the MYO5A c.4973_4974insA insertion in the Miniature Dachshund. The condition is known as dilute coat colour with neurological defects, coat colour dilution with neurological defects and a Griscelli syndrome type 1-like phenotype in dogs.

MYO5A encodes myosin VA, a protein involved in intracellular transport. When this protein does not function properly, pigment distribution and neurological function can be affected together.

What does this condition mean?

Affected puppies are recognised early by a striking dilute or pale coat colour. This is not only a colour trait: the variant also causes severe neurological problems that strongly affect normal development and function.

Reported puppies may be unable to hold the head up properly, show marked incoordination, fall onto the side, respond poorly to stimuli and display severe muscle weakness or motor dysfunction. Because the phenotype is severe, early genetic identification is mainly valuable for breeding prevention.

Inheritance and result

The trait is inherited as autosomal recessive. Two copies of the variant cause the condition. Carriers have one copy, usually appear healthy, and can pass the variant on.

What does the result mean?

• Clear (N/N): the tested insertion was not detected.
• Carrier (N/insA): the dog carries one copy and can pass the variant on.
• Affected (insA/insA): two copies cause dilute coat colour with severe neurological defects.

Practical value of this test

• Identifies hidden carriers before breeding combinations are planned.
• Helps avoid carrier-to-carrier matings and prevents puppies with a severe early neurological phenotype.
• Gives breeders clear information when dilute coat colour and neurological problems occur in a line.
• Supports transparent selection of breeding animals and communication about genetic risk.
• Helps reduce the risk of recombining the same recessive MYO5A variant.

This test is therefore especially valuable as a preventive breeding test: it makes a severe recessive risk visible before a mating is made.