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→ Accumulation of cerebrospinal fluid in a foal’s brain.
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- Product Information
- General Information
- Inheritance and Genotypes
|Affected breeds:||Friesians and related breeds|
|Description:||Hydrocephalus Genetic Testing
This test detects the change of a single basepair in exon 12 in the B3GALNT2 gene.
|Time:||10 – 14 days|
- Accumulated fluid exerts pressure on brain and skull.
- Affected foals are usually stillborn.
- Can lead to complications during birth → endangers mare.
- Enlarged skull
Inheritance and Genotypes
→ Hydrocephalus is an autosomal recessive hereditary disease, meaning that horses with only one copy of the genetic variant (N/hcp) are clinically normal carriers while horses with two copies of the genetic variant (hcp/hcp) are affected.
|Genotype:||The horse is:||Effects:|
|N/N||normal.||The horse does not have any copies of the genetic variant causative for Hydrocephalus and therefore cannot pass it on to any offspring.|
|N/hcp||a carrier.||The horse is clinically normal. The genetic variant causative for Hydrocephalus will be passed on to its offspring with a probability of 50%.|
|hcp/hcp||affected.||The horse is affected and will not live long enough to reproduce.|
- Carriers may be bred to normal animals (N/hcp x N/N) without any risk of producing affected offspring. The offspring should also be tested before breeding to determine if they are carriers or normal.
- Breeding two carriers (N/hcp x N/hcp) is not recommended due to the possibility of 25% of the offspring being affected.
Ducro, B.J., Schurink, A., Bastiaansen, J.W., Boegheim, I.J., van Steenbeek, F.G., Vos-Loohuis, M., Nijman, I.J., Monroe, G.R., Hellinga, I., Dibbits, B.W., Back, W., Leegwater, P.A.: A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses. BMC Genomics 16:761, 2015. Pubmed reference: 26452345. DOI: 10.1186/s12864-015-1936-z.
Further information is available at Online Mendelian Inheritance in Animals.