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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
PriceOn request
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: On request · Turnaround time: 30 days

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