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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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Spesifikasjoner
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Generell informasjon
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.
Kliniske egenskaper
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).
Tilleggsinformasjon
Referanser
Pubmed ID: 29460419
Omia ID: 2196