Abortion (embryonic lethality), BTBD17-related
Code: H758
Short description
This recessive mutation to the gene BTBD17 causes embryonic lethality (spontaneous abortion) in affected embryos in the German Shorthaired Pointer and closely related dogs.
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.
Specifications
| Breeds | American Cocker Spaniel, Beagle, English Cocker Spaniel, English Pointer, German Shorthaired Pointer |
|---|---|
| Gene | BTBD17 |
| Chromosome | 9 |
| Organ | Reproductive system |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
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
Year published: 2017
Omia ID: 2132
Omia variant ID:
Turnaround information
- 15 working days