Test Detail

Congenital stationary night blindness CSNB2 (GRM6) — Tennessee Walking Horse

Ocular · Horse

Non-progressive congenital night blindness due to dysfunction of the retinal ON pathway; daytime vision is preserved. In the horse, forms associated with TRPM1 (leopard complex) and with GRM6 have been described; the one in the Tennessee Walking Horse corresponds to GRM6. The test is complementary to the ophthalmological examination and electroretinography.
Inheritance patternAutosomal recessive (GRM6). Limited data in the dossier.
Gene / MutationGRM6 c.533C>T (p.Thr178Met; rs1138010744). OMIA:002692. (The TRPM1 form, leopard complex, is a different entity.)
PenetranceLimited data.
Sample type0,5-1 ml sangre-EDTA o 20-30 pelos de la crin o la cola
Codemtpc
Turnaround time30 days
Price85,54 €
BreedsTennessee walking horse

Incidence

American Saddle Horse, Trotón americano, Caballo miniatura, Missouri Fox Trotting, Morgan, Cuarto de Milla, Racking Horse, Rocky Mountain, Spotted Saddle and Tennessee Walking Horse. Frequencies: limited data.

Clinical signs

- Night blindness from birth
- Apparently normal daytime vision
- Stationary course (non-progressive)

History

The dossier records the variant GRM6 NC_009157.3:g.2655618C>T (XM_001916934.4:c.533C>T; p.Thr178Met; rs1138010744), on ECA14. No author or year is stated.

Breeder management

- Genotype breeding animals (distinguish GRM6 from TRPM1)
- Avoid matings between carriers
- Record the visual phenotype of the offspring

Specialist notes

Differential diagnosis with other blindnesses (cerebellar atrophy, cataracts, uveitis) and with the leopard complex (TRPM1). Complementary: electroretinography and adaptometry.

References

1. OMIA:002692 Ceguera nocturna congénita estacionaria (GRM6) del caballo

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Price: 85,54 € · Turnaround time: 30 days

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