Cerebral Dysfunction (Friesian Stabyhoun Type)
Affected Genes: SLC6A3
Inheritance: Autosomal Recessive
Variant(canFam6):
chr34:15735518: G>A
Breed: Friesian Stabyhoun
General Information: Cerebral Dysfunction (Friesian Stabyhoun Type) is an inherited neurological disorder in dogs characterized by abnormal brain function leading to a range of cognitive and motor impairments. This condition results from a genetic mutation that affects the normal development and function of the brain. Dogs with two copies of the associated gene mutation are predisposed to Cerebral Dysfunction, which can manifest early in life. Symptoms include uncoordinated movements, tremors, seizures, difficulty walking, and behavioral changes. As the disease progresses, it can lead to severe neurological impairment and significantly impact the dog's quality of life. Early diagnosis and supportive care are essential for managing the condition and maintaining the dog’s comfort and well-being.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Likely Affected
One Variant Detected: Dog Unlikely Affected
No Variants Detected: No Effect
Gene / Testing Information: Genetic testing of the specific gene associated with Cerebral Dysfunction (Friesian Stabyhoun Type) can determine if a dog is a carrier of this condition. This disorder is inherited in an Autosomal Recessive manner, meaning that dogs must inherit two copies of the mutated gene, one from each parent, to develop the disease. Carrier dogs, possessing only one copy of the mutation, typically do not show symptoms but can pass the gene to their offspring. When two carriers are bred, each pup has a 25% chance of developing the disease and a 50% chance of being a carrier. Reliable genetic testing is crucial for informed breeding practices to eliminate this mutation from breeding lines, and breeding two carriers together is not recommended to avoid producing affected pups. Dogs that are not carriers have no increased risk of having affected offspring.
References:
Arata, S., Ogata, N., Shimozuru, M., Takeuchi, Y., & Mori, Y. Sequences and polymorphisms of the canine monoamine transporter genes SLC6A2, SLC6A3, and SLC6A4 among five dog breeds. J of Vet Med Science 2008 70(9):971-975