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H727

SIX6-related congenital Eye Malformation in the Golden Retriever is a highly variable eye disease.

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Specifications

Breeds

Gene

Organ

specimen

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

Chromosome

Year Published

General information

SIX6-related congenital Eye Malformation in the Golden Retriever is a highly variable eye disease. It is caused by an incompletely dominant mutation of the gene SIX6.

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

Omia ID: 2208

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3. Results

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