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Dog DNA testing illustration

Achromatopsia 2 (Day Blindness) – German Shepherd

Code: H386

74,72 €

Sample details

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

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Short description

Achromatopsia or Cone Degeneration Disease (CD) is a disease that is caused by degeneration of retinal cone cells.

General information

Achromatopsia or Cone Degeneration Disease (CD) is a disease that is caused by degeneration of retinal cone cells. Cone cells can register colour and are important for adjustment of the eyes when they are exposed to bright light.

Specifications

Breeds

German Shepherd
Gene

CNGA3
Chromosome

10
Mutation

c.1270C>T
Organ

Sensory organs
Specimen

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

Autosomal Recessive
Also known as

Cone degeneration; hemeralopia

Clinical features

Dogs affected with Achromatopsia or Cone Degeneration Disease (CD) suffer from day blindness due to degeneration of the retinal cones. The disease appears at a young age. The pups will become day-blind and are photophobic – meaning that exposure to bright light is irritating or even painful. The pup will seek areas with dimmer light.

References

Pubmed ID: 26407004

Year published: 2015

Omia ID: 1481

Omia variant ID:

Turnaround information

  • 15 working days