Embryonic lethality / abortion / XX DSD (BTBD17-related) - Dog

BTBD17, embryonic lethality and XX DSD in dogs

This genetic test assesses the BTBD17 c.85+206_85+207insG variant on chromosome 9. The test is used for conditions described as embryonic lethality, spontaneous abortion, abortion due to embryonic loss, BTBD17-related lethality and XX disorder of sex development (XX DSD).

In dogs with a clear German Shorthaired Pointer background, two copies of this variant usually cause early embryonic lethality. This can be seen as smaller litters, missing puppies from an expected mating or loss of embryos before birth. In other breeds, the same variant is mainly used as a risk marker for XX DSD, where genetically female dogs may develop male sex characteristics and are often subfertile or sterile.

Practical value of this test

• The test clarifies whether a dog carries zero, one or two copies of the tested BTBD17 insertion.
• The trait is interpreted within this test as autosomal recessive, with the strongest abortion relevance in German Shorthaired Pointer background.
• The result helps breeders avoid carrier matings and manage fertility, litter planning and DSD risk in a breed-aware way.