About the Australian Shepherd

The chromosome-12 FGF4 insertion makes the spinal discs degenerate early, which raises the risk of a disc rupture that can cause pain or paralysis, and one copy is enough to raise it. It is uncommon in this breed — in a screen of about 2,300 Australian Shepherds, roughly one in twenty-two carried it.

An inherited degeneration of the retina that starts as night blindness in adulthood and slowly progresses to blindness; there is no treatment. It is recessive and uncommon in this breed — among 1,454 European Australian Shepherds tested, about one in thirty-five was a carrier.

A fatal storage disease of the brain, found first in a mixed-breed dog of Australian Shepherd ancestry: its neurological signs began at about eight months and kept worsening, and it was put to sleep at 21 months because of increasingly frequent seizures. It is recessive and rare: of 1,488 Australian Shepherds tested, four were carriers and three had two copies, all of them with signs of the disease.

An inherited eye condition, first described in Mastiff-type breeds, that causes raised patches on the retina from puppyhood; it changes how the retina looks but rarely affects sight. It is recessive and rare in this breed — among 376 European Australian Shepherds tested, about one in a hundred was a carrier.

An inherited fragility of the skin described in one highly inbred litter of this breed: within the first weeks, three of five puppies developed widespread ulcers of the skin, footpads and mouth, and all three had to be put to sleep. It is recessive and looks very rare — the variant was not found in 242 other Australian Shepherds.