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H758

This recessive mutation to the gene BTBD17 causes embryonic lethality (spontaneous abortion) in affected embryos in the German Shorthaired Pointer and closely related dogs.

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Specifications

Breeds

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Gene

Organ

specimen

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

Chromosome

Year Published

General information

This recessive mutation to the gene BTBD17 causes embryonic lethality (spontaneous abortion) in affected embryos in the German Shorthaired Pointer and closely related dogs. In other dogs, including the Beagle and Cocker Spaniel, the mutation is instead a risk factor for XX Disorder of Sex Development (XX DSD), in which genetically female dogs may develop a range of male sexual characteristics.

Clinical features

In dogs with at least 50% German Shorthaired Pointer genetic background, the BTBD17 mutation is homozygous lethal. In a mating between two carriers, each embryo has a 25% chance of spontaneously aborting, potentially reducing litter size.

XX DSD in dogs is variable in symptoms and can affect both internal and external genitalia. Affected female dogs (that is, with an XX karyotype) may develop external testes or ovotestes, and are often sterile.

Additional information

This mutation causes embryonic lethality in dogs with over 50% German Shorthaired Pointer genetic background.

For other dogs, the mutation in this test should be considered a risk factor for DSD, and has not been established as the cause of that disorder.

References

Pubmed ID: 29053721

Omia ID: 2132

How does it work?

1. Select your product(s)

Select your single test, a CombiBreed Package or create your own Bundle.

2. Collect DNA sample

Collect DNA material as indicated with our products and send it to our laboratory.

3. Results

We handle your DNA sample with care and provide you with the results.

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