Unilateral Deafness and Vestibular Dysfunction (PTPRQ, DINGS1) – Doberman
Kodas: H911
Short description
In the Doberman, a recessive mutation to the gene PTPRQ causes an inner ear disorder known as Unilateral Deafness with Vestibular Dysfunction.
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.
Specifications
| Breeds | |
|---|---|
| Gene | PTPRQ |
| Chromosome | 15 |
| Mutation | c.9230_9231insA |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | DINGS |
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).
References
Pubmed ID: 29460419
Year published: 2018
Omia ID: 2196
Omia variant ID:
Turnaround information
- 10 working days