Spinal dysraphism / neural tube defects / myelodysplasia (NKX2-8-related) - Weimaraner

What does this test examine?

This genetic test analyses the NKX2-8 variant c.449delinsTT in the Weimaraner. The condition is known as spinal dysraphism, SD, neural tube defects, NTD and myelodysplasia.

What does spinal dysraphism mean?

Spinal dysraphism results from abnormal early embryonic development of the neural tube, which gives rise to the spinal cord and spinal canal. Affected Weimaraners can show abnormal gait from a young age, with rear-limb weakness or poor coordination, broad stance, abnormal reflexes and sometimes the typical simultaneous movement of the hind legs.

Inheritance and result

The trait is autosomal recessive. Clear dogs do not carry the tested variant, carriers have one copy and dogs with two copies develop the genetic disorder. Carriers are usually healthy but can pass the variant to offspring.

Practical value of this test

• Breeders can identify carriers before mating and avoid puppies with spinal dysraphism.
• The result helps explain neurological movement problems in the Weimaraner in a targeted genetic way.
• Targeted mate selection makes it possible to manage the variant without unnecessarily losing valuable breeding lines.