INHERITED DISEASES OF THE BORDER COLLIE
What you need to know
There are a number of known diseases found in the border collie and as responsible breeders we ensure all of our dogs are DNA tested for these diseases prior to breeding. Some border collies may carry a gene for any one of these diseases and if joined to another carrier will produce affected puppies. To ensure this never happens, responsible breeders will only breed a carrier dog to a clear of the disease mate. This is why it is VERY IMPORTANT to choose your breeder carefully.
DNA full breed profile testing for the border collie is always being updated with new tests becoming available as new discoveries are made for testable diseases. Below is a detailed list and description of genetic testing available for the border collie and what every breeder at a minimum should test for prior to breeding.
FREQUENTLY ASKED QUESTIONS
How do I interpret a DNA Report?
Make sure to ask for a copy of both parents health testing reports and check that at least one parent is clear of the other parents carrier or affected status on any disease listed. There are currently many testable diseases (see below for a full list of current known tests that should be reported). Ideally the report should be verified by an authorized collection agent or veterinarian. and testing should have been undertaken by an authorized laboratory such as Orivet.
Why even breed with a carrier animal?
The answer is simple, geneticist advise against restricting breeding to only animals completely free of disease as it can result in a loss of genetic variability, loss of valuable breed standard traits and the emergence of other genetic problems. By keeping carriers in breeding programs it avoids these problems.
Are there diseases that cant be tested for in the Border Collie?
There are diseases known that currently do not have a genetic DNA test available (such as epilepsy, border collie collapse and lupus). This is why its important to seek breeders who know and research their pedigree lines when making breeding decisions.
COLLIE EYE ANOMALY
Collie Eye Anomaly is a developmental defect of the eyes that is inherited in a simple recessive manner. It affects the retina, choroid, and sclera and can be a mild disease or cause blindness. The disease can be detected by a vet specialist at 6-8 weeks of age and the disease can cause retinal haemorrhages that may lead to retinal detachment.
TRAPPED NEUTROPHIL SYNDROME
TNS is an immune deficiency in Border collies. This results in a susceptibility to infection and tendency to ill-thrift and repeated infections. Some pups are small and fine-boned in appearance, while others appear normal. Pups will often react badly to vaccination, developing severe fever and illness. Most affected animals die or are euthanised by the age of 6 months.
CL is inherited in an autosomal recessive manner, and is seen infrequently but regularly in Border collies. A defect in metabolism leads to a build up of a pigmented toxin called ceroid lipofuscin within cells, including those of the brain and retina. This causes death of brain cells, as they cannot function normally as this waste product continues to build up. Affected dogs will have an acute onset of neurologic signs around the age of 2 years, with common signs including abnormal behaviour, dementia-like changes, central blindness, circling and seizures. There is no treatment available and affected dogs will die quickly. Euthanasia is the only option.
Glaucoma is a condition caused by the abnormal development of the eye which can result in excessive pressure buildup, eventually causing permanent damage to the optic nerve, resulting in blindness. Most forms of glaucoma can be placed into two categories, primary and secondary. The term primary glaucoma is used to describe those types of glaucoma caused by an inherited physical or physiological trait that an animal has been predisposed to. (Secondary glaucoma is a term referred to when the disease is triggered by something other than genetics). Many dogs affected by glaucoma will become blind in the affected eye within the first year. Symptoms of glaucoma include: severe pain, sensitivity to light, winking spasms, sunken eyes, raised third eyebrow, dog winces when you touch the head, watery eyes, pain-related behavioral change (hiding, refusal to eat), red eye, and dilated pupils.
COBALAMIN MALABSORPTION: CUBILIN DEFICIENCY
Affected dogs are unable to make adequate amounts of a protein that plays a role in absorption of certain nutrients from the intestinal tract and kidneys, including the B vitamin, cobalamin. Affected dogs can show signs from as early as 14 weeks of age, but symptoms of disease may not be recognized by owners for months or years. Symptoms of disease include anorexia, lethargy, poor weight gain, poor muscle mass, and in rare circumstances, a severe neurological dysfunction called hepatic encephalopathy that can lead to altered mental state, seizures, coma and death.
RAINE SYNDROME DENTAL HYPOMINERALISATION
Canine dental hypomineralization or Raine Syndrom is a disorder that causes severe tooth wear resulting in pulpitis and requiring extraction of those teeth. Dental hypomineralization is a canine model for human Raine Syndrome. Dental examination of the affected dogs reveals a significant wear. Lower incisor teeth can be worn close to the gingival margin. The enamel shows a light brown discoloration and appears dull. Some worn teeth can have a pulp exposure and pulpits as a result of the wear.
IVERMECTIN SENSITIVITY MDR1 (MULTI DRUG RESISTANCE)
Ivermectin Sensitiivity causes a mutation on the MDR1 gene (which stands for Multi Drug Resistance 1) and makes affected animals sensitive to certain drugs. The first drug that this defect was found to be present for was Ivermectin, used to treat mange and prevent heartworm. Affected dogs suffer seizures when given this drug as the brain is not able to efficiently pump some drugs out of its protected environment the way normal brain vessels do. This results in a toxic build up and seizures result.
ADULT ONSET DEAFNESS
Domestic dogs can suffer from hearing losses that can have profound impacts on working ability and quality of life. Aadult-onset hearing loss in Border Collies appears to have a genetic cause, with an earlier age of onset (3–5 years) than typically expected for ageing dogs (8–10 years).
is an inherited defect of renal transport that included malabsorption of cystine and the dibasic amino acids ornithine, lysine and arginine, collectively known as COLA. Dogs with cystinuria often have recurrent inflammation of the urinary tract and if not treated, urinary stones can cause urinary tract infections, kidney failure and even death.
can be a debilitating disease that leads to the gradual paralysis in many breeds. Typically seen at the age of around 8 to 14 years it presents with a loss of coordination in the hind legs.
Myotonia congenita also known as myotonia hereditaria (Australian cattle dog type) is an inherited muscle disorder affecting dogs. The muscle cells of an affected dog are over-excitable, which causes muscles to remain contracted rather than relaxing after voluntary activity.
PRIMARY LENS LUXATION
Lens luxation refers to the lens being in an abnormal position inside the eye. Clinical signs include a sudden onset of pain (squinting, tearing etc), redness, and cloudiness of the cornea. The lens may partially or fully luxate into the front chamber of the eye, causing acute glaucoma (increased pressure within the eye). Sometimes the lens may fall backwards into the posterior (back) chamber of the eye, which may displace the vitreous forwards. This may then also lead to a blockage of drainage of fluid from the eye and a secondary glaucoma. Glaucoma (increased fluid pressure within the eye) is a common consequence of lens luxation, and can rapidly lead to blindness. Lens luxation is a veterinary emergency
VON WILLEBRANDS DISEASE TYPE II
Von Willebrand’s disease is the most common inherited bleeding disorder in dogs and occurs when there is a lack of functional von Willebrand factor. von Willebrand factor is needed for the normal adhesion of platelets and for normal blood clotting to occur. This type of von Willebrand’s disease leads to severe bleeding disorders and episodes of bleeding.