Affected genes: F8
Inheritance: Recessive,  X-linked
Mutation:  CanFam3.1      chrX    g.122975611C>T    c.1700G>A    p.(C567Y)    
        ***NM_001003212.1; NP_001003212.1; published as c.1643G>A & p.(C548Y); coordinates in the table have been updated to a recent reference        genome  and / or transcript.

OMIA link: 000437-9615

Appropriate breeds for testing: German Shepherd, White Swiss Shepherd, Shiloh Shepherd

Symptoms:
Hemophilia A (German Shepherd Dog, Type 2) is an inherited bleeding disorder and is caused by a deficiency in clotting factor VIII, a protein essential for normal blood clotting. Affected dogs usually show mild to moderate signs of a bleeding disorder.
Since the mutation is linked to the X chromosome, this means that a female must have both copies of the mutated gene to develop the disease. While a single copy in the male, transmitted by the mother, is enough to develop the disease. Each male puppy born to a female carrier of the mutation has a 50% chance of having the disease.

References:
Christopherson PW, Bacek LM, King KB, Boudreaux MK. Two novel missense mutations associated with hemophilia A in a family of Boxers, and a German Shepherd dog. Vet Clin Pathol. 2014 Sep;43(3):312-6. doi: 10.1111/vcp.12172. [PubMed: 25040606]