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H911

In the Doberman, a recessive mutation to the gene PTPRQ causes an inner ear disorder known as Unilateral Deafness with Vestibular Dysfunction.

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Specifications

Breeds

Gene

Organ

specimen

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

Chromosome

Also known as

Year Published

General information

In the Doberman, a recessive mutation to the gene PTPRQ causes an inner ear disorder known as Unilateral Deafness with Vestibular Dysfunction. In the Doberman breeding community, the disorder is colloquially known as DINGS1.

Clinical features

Affected puppies develop deafness by the age of three weeks. They also show signs of vestibular dysfunction (loss of ability to balance), such as head-tilting, circling movements and ataxia (loss of coordination).

Additional information

References

Pubmed ID: 29460419

Omia ID: 2196

How does it work?

1. Select your product(s)

Select your single test, a CombiBreed Package or create your own Bundle.

2. Collect DNA sample

Collect DNA material as indicated with our products and send it to our laboratory.

3. Results

We handle your DNA sample with care and provide you with the results.

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