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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.

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

Extra information

References

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