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Dog DNA testing illustration

Beta-Mannosidosis – German Shepherd

Code: H788

74,72 €

Sample details

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

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Short description

Beta-Mannosidosis is a metabolic disease that causes neurological defects such as lack of coordination, seizures and deafness.

General information

Beta-Mannosidosis is a metabolic disease that causes neurological defects such as lack of coordination, seizures and deafness. This variant of the disorder, found in the German Shepherd, is caused by a recessive mutation to the gene MANBA. The disease is severe, and affected dogs are typically euthanized on humane grounds.

Specifications

Breeds

German Shepherd
Gene

MANBA
Chromosome

32
Mutation

c.560T>A
Organ

Nervous System
Specimen

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

Autosomal Recessive

Clinical features

Affected puppies start presenting at approximately 8 weeks of age with reduced growth, deafness, stiff limbs, ataxia (loss of coordination), difficulty running and navigating obstacles. The disease seems to cause pain, leading to reluctance to move. Due to poor quality of life, euthanasia is typically elected for by 8 months of age.

References

Pubmed ID: 30983534

Year published: 2019

Omia ID: 626

Omia variant ID:

Turnaround information

  • 15 working days