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Horse DNA testing illustration

Congenital Stationary Night Blindness 2 (CSNB2) – Horse

Code: P398

74,72 €

Sample details

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

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Short description

Congenital Stationary Night Blindness 2 (CSNB2) is a genetic retinal disorder characterized by impaired vision in low light conditions.

General information

Congenital Stationary Night Blindness 2 (CSNB2) is a genetic retinal disorder characterized by impaired vision in low light conditions. It is caused by an autosomal recessive mutation in the metabotropic glutamate receptor 6 (GRM6) gene, which is essential for transmitting visual signals from rod photoreceptors to ON-bipolar cells in the retina. The mutation disrupts signal transmission in dim light, resulting in night blindness despite a structurally normal eye.

This disorder is distinct from the Leopard Complex (LP)/Appaloosa-associated form of night blindness and was first identified in a Tennessee Walking Horse. The variant has since been reported in additional breeds.

Specifications

Breeds

American Quarter Horse, American Trotter, Missouri Fox Trotter, Racking Horse, Rocky Mountain Horse, Spotted Saddle Horse, Tennessee Walking Horse, American Saddlebred, Miniature Horse, Morgan
Gene

GRM6
Chromosome

14
Mutation

c.533C>T
Organ

Sensory organs
Specimen

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

Autosomal Recessive
Also known as

CSNB2

Clinical features

Affected horses have normal vision in daylight but show difficulty seeing in low-light or dark conditions. Clinical signs are typically present from birth, although they may become more noticeable as young horses begin navigating unfamiliar environments. Horses may hesitate to move in poorly lit areas, appear anxious when entering dark spaces, struggle to detect obstacles at dusk or night, and may be at increased risk of accidental injury in low-light conditions.

CSNB2 is non-progressive and does not worsen over time. It does not affect overall health or lifespan, but it may impact management and safety in environments with limited lighting.

References

Pubmed ID: 32654228

Year published: 2021

Omia ID: 2692

Omia variant ID:

Turnaround information

  • 15 working days