Friesian Dwarfism, Hydrocephaly Genetic Tests Available

Genetic Testing at Gluck is offering tests to identify carriers of the dwarfism and hydrocephaly mutations.
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Genetic Testing (GeT) at Gluck is now offering tests for two disorders in Friesian horses: dwarfism and hydrocephaly.

Dwarfism in Friesians is characterized by abnormally short limbs and flexor tendon laxity resulting in an abnormal gait. The rib cage might also be malformed. Dwarfism’s mode of inheritance is as a simple recessive. Mutation carriers appear normal, but if two carriers be bred there is a one-in-four chance of a dwarf being born. Researchers discovered a mutation in the B4GALT7 gene that can causative dwarfism. As a result, they’ve developed the genetic test to identify Friesian and Friesian crossbred carriers so breeders can avoid breeding two carriers.

Hydrocephaly is a developmental defect in foals characterized by an accumulation of cerebrospinal fluid in the brain’s ventricular system. Affected foals are born with grossly enlarged foreheads and are often stillborn or require euthanasia soon after birth. A hydrocephalic foal also presents a potential dystocia (difficult birth) risk for the mare. While hydrocephaly can have other causes such as infection or trauma, researchers have identified a mutation associated with this condition in the B3GALNT2 gene. Like dwarfism, hydrocephaly is caused by a recessive mutation, meaning there’s a one-in-four chance of having an affected foal if two carriers are bred. As such, Friesians and Friesian crossbreds should be tested prior to breeding to avoid production of an affected foal.

The cost is $35 for each test or $60 for both tests. Submission forms and instructions are available at getgluck.ca.uky.edu/content/submission-forms. Friesian Horse Association of North America members should contact that association regarding testing procedures and submission of samples

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