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Horse DNA testing illustration

Hydrocephalus – Friesian

Code: P519

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

Hydrocephalus, or water on the brain, is a developmental disorder in which cerebrospinal fluid (CSF) accumulates in the skull, creating increased pressure on the brain.

General information

Hydrocephalus, or water on the brain, is a developmental disorder in which cerebrospinal fluid (CSF) accumulates in the skull, creating increased pressure on the brain. This may result in the stillbirth of affected young.

In Friesian horses, a variant of the disorder is caused by a recessive mutation to the gene B3GALNT2.

Specifications

Breeds

Friesian
Gene

B3GALNT2
Chromosome

1
Mutation

c.1423C>T
Organ

Nervous System
Specimen

Hair, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive

Clinical features

Affected foals develop severely distended, dome-shaped skulls due to increased pressure of CSF around the brain, and are likely to be stillborn. The disorder can also cause dystocia (obstructed/difficult birth) in dams of affected foals.

References

Pubmed ID: 26452345

Year published: 2015

Omia ID: 487

Omia variant ID:

Turnaround information

  • 15 working days