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Dog DNA testing illustration

Gangliosidosis (GM1) – Portuguese Water Dog

Code: H452

74,72 €

Sample details

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

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Short description

Gangliosidosis is a type of metabolic disorder that affects the muscles and nervous system, causing progressive dysfunction and impaired growth.

General information

Gangliosidosis is a type of metabolic disorder that affects the muscles and nervous system, causing progressive dysfunction and impaired growth. This particular variant of the disorder, GM1 Gangliosidosis, is caused by a is caused by a recessive mutation to the gene GLB1, and is found in the Portuguese Water Dog. Related variants of GM1 Gangliosidosis are also found in the Shiba Inu and Alaskan Husky.

Specifications

Breeds

Portuguese Water Dog
Gene

GLB1
Chromosome

23
Mutation

c.200G>A
Organ

Nervous System
Specimen

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

Autosomal Recessive
Also known as

GM1

Clinical features

Affected dogs present within the first 6 months of life with neurological symptoms such as hypermetria (overextension of limbs while stepping), nystagmus (trembling/wobbling eyes), intention tremors of the head and exaggerated limb reflexes. The disease is progressive, and euthanasia is likely to be necessary due to poor quality of life.

References

Pubmed ID: 11032334

Year published: 2000

Omia ID: 402

Omia variant ID:

Turnaround information

  • 15 working days