Pristine Border Collies


Some of you might want to know more about hereditary diseases on border collies, so I made this page so you can get a better understanding of why it is so extremely important to do health tests before breeding. Dogs affected by a bad mutation are often offsprings of one common ancestor! It spreads uncontrollably fast, and it is our responsibility as breeders to prevent it as best we can, and hopefully eradicate sufferings in the future by careful planning and breeding. Please be careful. Do your research. This is my plea. All Pristine dogs are DNA tested for the most common hereditary diseases in border collies (CEA/CH, TNS, CL and MDR1) before breeding, including the stud dogs we use from other breeders. Therefore, I can guarantee that all Pristine puppies will be genetically clear of all of these illnesses by parentage.

DNA result	How it affects the dog	How it affects the breeding
normal/free	it will never develop the disease	it cannot give this disease to its pups
carrier	it will never develop the disease	it will pass one copy of the gene to some of its pups
affected	it will suffer from the disease	guaranteed to give a copy of the gene to all of its pups

.:DNA TESTS FOR BORDER COLLIES:.

I recommend testing at Laboklin, Optigen or Genoscoper. Each laboratory offers different tests.

Laboratory	CEA/CH	CL	TNS	MDR1	GL/GO	IGS	DH/RS	SN
Laboklin	V	V	V	V	V	V	V	V
Optigen	V	V	V	X	X	V	X	X
Genoscoper	V	V	V	V	V	V	V	V

CEA/CH (Collie Eye Anomaly / Choroidal Hypoplasia): Carriers: 18%. Affected 0,7%. Causes abnormal development inside the eye. It can be a mild disease or cause blindness. There is no treatment or cure. Can also cause coloboma, detachment and hemorrhage.

CL (Neuronal Ceroid Lipofuscinosis): Carriers: 2,5% Affected: 0. This disease originates from Australia and New Zealand. A neurodegenerative disorder, with psychical abnormalities and ataxy usually developing in all affected dogs. Increased restlessness, aggression, hallucinations, damaged retina, hyperactivity and epileptic attacks can be observed as well. Symptoms can be observed in border collies quite early, around 15 months of age. Most affected dogs lose their ability of normal muscular coordination during training, walking and feeding. Affected dogs rarely survive beyond 28 months of age. (Optigen does not accept cheek swabs for DNA test of CL, but Laboklin does).

TNS (Trapped Neutrophil Syndrome): Carriers: 19%. Affected: 0,7%. All known dogs affected by TNS are offsprings of one common ancestor coming from Australia. Research suggests that the gene is now widespread. Hereditary disease where the bone marrow produces white blood cells, but is unable to release them into the bloodstream. Due to the lack of white blood cells to fight off bacteria, affected puppies have an impaired immune system and will die at a young age. The oldest known survivor was 2 years and 8 months. The first symptoms may include apathy, loss of appetite, diarrhoea or poor mobility.

MDR1 (Multi Drug Resistance / Ivermectin-hypersensibility): Carriers: 3,5%. Affected: 1,5%. A hypersensitivity to multiple drugs including Ivermectin (antiparasitic drug). Affected dogs will have a bad reaction to some drugs, and it could be fatal.

Goniodysgenesis / Glaucoma: Goniodysgenesis affected: 16,6%. Increased pressure in the eye that will eventually result in permanent damage to the optic nerve and blindness unless treated. Affected dogs might have to have the eye removed in worst cases.

IGS (Imerslund-Gräsbeck Syndrome): Carriers: 7,1%. Affected: less than 1%. Affected dogs cannot absorb vitamin B12 and quickly begin to show symptoms of deficiency. Symptoms include anemia, delayed development, pale skin, fatigue, recurring infections, weak muscle tone. Cannot be cured, but the disorder can be managed with regular supplementation of cobalamin.

Dental Hypomineralisation (Raine Syndrome): Carriers: maybe as much as 11%, Affected: 0,3%. Causes abnormal tooth wear, pulpitis and tooth loss.

Sensory neuropathy: A very rare disease that affects the nervous system. Symptoms are loss of coordination, joint laxity, inability to perceive pain, and often self inflicted wounds. Symptoms begin showing at 5-7 months of age and in all cases progressed to the point where euthanasia was necessary.

Myotonia congenita: Muscles remain contracted after voluntary activity, causing involuntary movement. Causes abnormal muscle stiffness, strange gait, and structural facial deformities. Episodes do not appear to be painful, and the muscle stiffness may improve with increased exercise.

Von Willebrand's disease: Blood disorder that can lead to excessive bleeding following an injury, due to the lack of clotting.

All breeds can also be tested for:
- Degenerative Myelopathy (causes loss of coordination in hind limbs)
- Hyperurikosuria (excessive amounts of uric acid in the urine)
- Malignant Hyperthermia (triggered by exposure to certain anesthetics)

.:X-RAY:.

HD: A border collie must be atleast 12 months of age before x-rays, but I would recommend that you wait until the dog is fully grown and the bones have settled. In the US, they wait until the dog is 2 years of age before x-rays. Females should x-ray in between heats, as their hips can be a bit looser when in heat.
HD in Border collies (statistics from NKK): A/B = 85%, C = 9,5%, D = 4,5%, E = 1%

AD: I would strongly suggest that you x-ray elbows as well, even though there is less risk for your dog being affected.
AD in Border collies: A/B = 98,9%, C = 1%, D = 0,1%, E = 0

OCD (Osteochondritis dissecans) An inflammatory joint condition that occurs when the cartilage separates from the bone. It most commonly affects the shoulder joint, but the elbow, hip, or knee may also be involved. It appears to be genetic, but is a multi factoral condition that can also be caused by trauma, excessive excercise, diet, etc. Typically starts to show between 6-9 months of age. Symptoms are lameness, swelling and pain. Can in most cases be removed by surgery with good prognosis of complete recovery.

.:EYE EXAMINATION:.

Puppies are examined at 7 weeks, and should also be tested as adult - especially before breeding.
The eye exam should not be older than 1 year prior to mating.

PRA (Progressive Retinal Atrophy): causes vision loss culminating in blindness. It usually starts with decreased vision at night. Other symptoms include dilated pupils and decreased pupillary light reflex. There is no treatment, but it is not painful. There is no genetic test for PRA in Border Collies.

Goniodysgenesis / Glaucoma: Goniodysgenesis affected: 16,6%. Increased pressure in the eye that will eventually result in permanent damage to the optic nerve and blindness unless treated. Affected dogs might have to have the eye removed in worst cases. Can be examined by gonioscopy, but since this is not pleasant for the dog and might even involve anesthesia, I would rather recommend a DNA test for this.

.:EPILEPSY:.

Is the most common neurological disease in dogs. It is hard to have statistics over how many dogs are affected. Sometimes, epilepsy doesn't occur before the dog is adult and has already been used in breeding. External symptoms of seizures are spasms and twitching of whole body. Although not proven, the common conception is that epilepsy is hereditary, so let us hope they find a DNA test soon for this terrible suffering. In mild cases, dogs may live with the disease with medication, but in severe cases euthanization will be better for the dog.

Kennel Pristine donates to the Pastoral Breeds Health Foundation (PBHF) for further research on canine epilepsy. I urge you to do the same! Maybe one day we can eradicate this horrible suffering.

Svenska Vallhundklubbens Database of dogs affected by epilepsy