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Friesian Dwarfism

Regular Price: 35,00 € Special Price: 30,00 €

excl. 19% VAT

 → Dwarfism in the Friesian breed with disproportionate limbs.

For a breeder or veterinarian discount please contact us before ordering.

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Product Information

Affected breeds: Friesians and related breeds
Test #: H119
Description: Friesian Dwarfism Genetic Testing

This test detects the single basepair change in the B4GALT7 gene.
Samples: Hair, Blood
Time: 10 – 14 days

General Information

  • Abnormal development of leg bones and rib cage.
  • Affected horses have a normal sized head and torso but disproportionately short legs.
  • Rib cage shows inward protrusion of ribs which may lead to breathing issues.
  • Tendon laxity leads to instable joints and hence to abnormal gait.

Symptoms

  • Short legs in comparison to a normal sized head and torso
  • Inward protruded rib cage
  • Hyperextension of fetlock joints
  • Tendon laxity
  • Abnormal gait with outward rotation

Inheritance and Genotypes

→ Friesian Dwarfism is an autosomal recessive hereditary disease, meaning that horses with only one copy of the genetic variant (N/fd) are clinically normal carriers while horses with two copies of the genetic variant (fd/fd) are affected.

Genotype: The horse is: Effects:
N/N normal. The horse does not have any copies of the genetic variant causative for Friesian Dwarfism and therefore cannot pass it on to any offspring.
N/fd a carrier. The horse is clinically healthy. It has one copy of the genetic variant causitive for Friesian Dwarfism, which will be passed on to its offspring with a probability of 50%.
fd/fd affected. The horse has two copies of the genetic variant causitive for Friesian Dwarfism. The variant will be passed on to all offspring. All offspring will be carriers (N/fd).

Recommendations

  • Carriers may be bred to normal animals (N/fd 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/fd x N/fd) is not recommended due to the possibility of 25% of the offspring being affected.
  • Affected animals (fd/fd) should not be used for breeding.

References

Leegwater, P.A., Vos-Loohuis, M., Ducro, B.J., Boegheim, I.J., van Steenbeek, F.G., Nijman, I.J., Monroe, G.R., Bastiaansen, J.W., Dibbits, B.W., van de Goor, L.H., Hellinga, I., Back, W., Schurink, A. : Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7. BMC Genomics 17:839, 2016. Pubmed reference: 27793082. DOI: 10.1186/s12864-016-3186-0.

Further information is available Online Mendelian Inheritance in Animals.

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