Spinal dysraphism (NTD)

LABOKLIN Service ID: 8605

Neural tube defects result from abnormal closure or development of the neuronal tube during embryogenesis. In the Weimaraner breed, a mutation of the regulatory homebox gene NKX2-8, which is expressed in the developing tube, could be found to be associated with the neural tube defect, termed spinal dysraphism. The spinal dysraphism is a non-progressiv ataxia and is characterised by the following symptoms: abnormal hair streams along the back, kinked tails, scoliosis in the lumbar spinal region, paraparesis, “bunny-hopping”, crouched stance.

Method	sequencing
Breed list	Weimaraner
Heredity	autosomal recessive
Duration	1 - 2 weeks after arrival of the sample in the lab