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Congenital Eye Malformation (CEM) – Golden Retriever

Code: H727

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

Congenital Eye Malformation (CEM) in the Golden Retriever is a highly variable eye disease.

General information

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.

Specifications

Breeds

Golden Retriever
Gene

SIX6
Chromosome

8
Mutation

c.487C>T
Organ

Sensory organs
Specimen

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

Autosomal Dominant with Incomplete Penetrance

Clinical features

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.

References

Pubmed ID: 31207931

Year published: 2019

Omia ID: 2208

Omia variant ID:

Turnaround information

  • 15 working days