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Congenital Eye Malformation (CEM) in the Golden Retriever is a highly variable eye disease.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 8 |
| Mutation | c.487C>T |
| Mode of Inheritance | Autosomal Dominant with Incomplete Penetrance |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
Informations générales
Congenital Eye Malformation (CEM) in the Golden Retriever is a highly variable eye disease. It is caused by an incompletely dominant mutation of the SIX6 (SIX homeobox 6) gene. This SIX6-linked eye defect is also known as Retina Dysplasia and/or Optic Nerve Hypoplasia.
Caractéristiques cliniques
Malformation of the eyes due to this disease can take on many specific forms. Symptoms can include visual impairment, nystagmus (wandering eyes), cataracts, retinal detachment and other deformations of the lens, cornea and/or retinas. One or both eyes may be affected.
Additional Information
This trait has incomplete penetrance; carriers and and affected animals are likely, but not guaranteed, to present with the described clinical features.
Références
Pubmed ID: 31207931
Year published: 2019
Omia ID: 2208
Omia variant ID: 1098