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€57,48 €47,50 excl. VAT

P519

Hydrocephalus is a developmental disorder that results in stillbirth of foals and dystocia in dams by Friesian Horses.

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Specifications

Breeds

Gene

Organ

specimen

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

Chromosome

Year Published

General information

Hydrocephalus is a developmental disorder that results in stillbirth of foals and dystocia in dams by Friesian Horses. The disorder has an autosomal recessive mode of inheritance. The disease is caused by a mutation in the β-1,3-N-acetylgalactosaminyltransferase 2 (B3GALNT2) region. Inadequate passage of cerebrospinal fluid (CSF) causes an active distension of the ventricular system of the brain.

Clinical features

Clinical features include muscular dystrophy and an abnormal narrowing (stenosis) of the jugular foramen.

Additional information

References

Pubmed ID: 26452345

Omia ID: 487

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