LABOKLIN (UK)| Genetic Diseases | Horses| Equine Juvenile Spinocerebellar Ataxia (EJSCA) *
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Equine Juvenile Spinocerebellar Ataxia (EJSCA) *

Test number: 8942
Gene: EJSCA
Price: £ 78.00 (including VAT)
Breed
Quarter Horse (Horse with quarter horse blood) .
Description

Equine Juvenile Spinocerebellar Ataxia (EJSCA)

Equine Juvenile Spinocerebellar Ataxia (EJSCA) is a hereditary neurological disorder that primarily affects American Quarter Horses. Foals with this condition typically begin showing signs of incoordination (ataxia) between 1 and 4 weeks of age, with the hind limbs being more noticeably affected. The condition rapidly worsens, resulting in gait abnormalities and, within days, an inability to stand unaided. Due to its severity, foals diagnosed with EJSCA are usually euthanized.

Genetic Basis

EJSCA follows an autosomal recessive inheritance pattern, meaning that foals must inherit two copies of the defective gene—one from each parent—in order to develop the disease.

Genotype Interpretations

  • N/N (Normal):
    • The horse does not possess the EJSCA genetic variant.
    • It will not be affected by the disease and cannot pass the variant to its offspring.
  • N/EJ (Carrier):
    • The horse carries one copy of the EJSCA variant but does not exhibit symptoms of the disease.
    • It has a 50% chance of passing the variant to its offspring.
    • Mating two carriers results in a 25% chance of producing an affected foal (EJ/EJ).
  • EJ/EJ (Affected):
    • The horse has inherited two copies of the EJSCA variant and will develop the disease.
    • Affected foals typically display symptoms early in life, and the prognosis is poor.

Importance of Testing

Genetic testing, available through the Veterinary Genetics Laboratory (VGL) at UC Davis, helps breeders identify carrier horses (N/EJ) and make informed breeding choices. Avoiding the mating of two carriers can prevent the birth of affected foals, thereby reducing the prevalence of this serious condition in the horse population.

Trait of Inheritance
The trait of inheritance is autosomal recessive

Inheritance : AUTOSOMAL RECESSIVE trait


 

Sire

 

Dam

 

Offspring

         
clear
clear
100% clear
         
clear
carrier
50%  clear + 50% carriers
         
clear
affected
100% carriers
         
carrier
clear
50%  clear + 50% carriers
         
carrier
carrier
25% clear + 25% affected + 50% carriers
         
carrier
affected
50% carriers + 50% affected
         
affected
clear
100%  carriers
         
affected
carrier
50% carriers + 50% affected
         
affected
affected
100% affected

 


Clear

Genotype: N / N [ Homozygous normal ]

The horse is noncarrier of the mutant gene.

  • The horse does not possess the EJSCA genetic variant.
  • It will not be affected by the disease and cannot pass the variant to its offspring.

 

Carrier

Genotype: N / EJSCA [ Heterozygous ]

The horse carries one copy of the mutant gene and one copy of the normal gene.

  • The horse carries one copy of the EJSCA variant but does not exhibit symptoms of the disease.
  • It has a 50% chance of passing the variant to its offspring.
  • Mating two carriers results in a 25% chance of producing an affected foal (EJ/EJ).

 

Affected

Genotype: EJSCA / EJSCA [ Homozygous mutant ]

 

The horse carries two copies of the mutant gene and therefore it will pass the mutant gene to its entire offspring.

  • The horse has inherited two copies of the EJSCA variant and will develop the disease.
  • Affected foals typically display symptoms early in life, and the prognosis is poor.
Sample Requirements
Hair Sample from mane with roots (approx 30 hairs)

How to obtain a viable hair sample

Pull around 30 hairs from the mane of the horse with the roots (in faols hair from the tail maybe taken). Wrap the hairs around your finger or a comb, as close as possible to the skin to ensure you obtain the hair roots. Keep dry, put in a bag, label the bag with the horse name, test (s) required. Place in an envelope and send back to us together with the order form. Broken or cut off hair will not be accepted.

Turnaround
3-5 weeks
Price
£ 78.00 (including VAT)

To order:




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