€57,48 €47,50 hors TVA
In the Doberman, a recessive mutation to the gene PTPRQ causes an inner ear disorder known as Unilateral Deafness with Vestibular Dysfunction.
10 working days
Excl €5,95 shipping and administration per order (incl. VAT)
Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 15 |
| Mutation | c.9230_9231insA |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | DINGS |
Informations générales
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.
Caractéristiques cliniques
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
Références
Pubmed ID: 29460419
Year published: 2018
Omia ID: 2196
Omia variant ID: 988