Health

Firstly it is important to understand that ALL living things, including humans, and all breeds of dog, including cross breeds and ‘designer’ dogs will carry some undesirable genes for conditions we would rather not have.

Some will be very minor, and not bother dog or owner, others can be more serious, and it is the more serious conditions’ that good breeders will try to eliminate when choosing individuals for breeding.

As time goes on, more conditions will undoubtedly be recognised, and as they do, breeders will be working hard to try and find tests for them Some of these conditions will be ‘recessive’ meaning that the undesirable gene has to be carried, and passed on, from both parents in order to produce the condition in the pup. Some conditions are ‘dominant’ and can be passed on from just one parent, And some will be ‘polygenic’ and need a combination of genes to be passed on from either one or both parents in order to produce the condition in a pup.

Some conditions can also be influenced by the way the pup is reared, or by other ‘outside’ factors. The fact that there seems to be a lot of health tests available for border collies does not mean that, as a breed, they are more un-healthy than other breeds that have fewer tests. It means the opposite in fact, that breeders have put a lot of work, time and money into researching conditions that we know to exist, and have had scientific tests developed to find out which dogs are the least likely to produce these conditions, to ensure that the puppies bred have the best possible chance of a long, active, healthy life.

DNA tests have been developed for some conditions. This involves sending a blood sample from an individual to a specialised laboratory, for the DNA to be extracted and then looked at, to see if a particular gene is present and if so, if there is just one or two copies of it present. This is the best way of testing as it can tell if an animal is genetically ‘clear’ and has no copy of the undesirable gene at all, so can never develop, pass on, or produce the condition in any of its pups. If the individual is a ‘carrier’ and has just one copy of the undesirable gene. In which case it will never suffer from, or show any sign of the condition itself, but could, if bred from, pass its copy of the undesirable gene on to some its pups. Or if an individual is ‘affected’ and has two copies of the undesirable gene, in which case it will develop symptoms of the condition and will pass on a copy of the undesirable gene to all of its pups.

 Other conditions can be looked for by a physical examination from a vet specialising in the relevant condition. This is useful as it can tell if an animal is affected or not, but it can not tell if it is a ‘carrier’ or not, or if it could pass on the condition to pups. Obviously no responsible breeder would breed from a dog that they knew was affected with an identifiable health condition. This method of examination is not quite so reliable as it is open to human error, even the best vet can have an -off day – and can miss-diagnose. This method of testing is used for conditions that we do not yet have a DNA test developed for. Conditions we have DNA tests for include –

TNS (Trapped Neutrophil Syndrome)

In normal individuals white blood cells are developed in the bone marrow, and then released into the blood stream, where they fight infections. In affected pups, these white blood cells are not released into the blood stream, and so the pup has no immunity to fight infections. Pups become weak and sickly, and very rarely survive past four months of age.

They can be helped with anti biotic and steroids, but will eventually need to be put to sleep to end suffering. In ‘normal’ individuals there is no copy of the TNS gene in the DNA. ‘Carriers’ will have one copy of the TNS gene, which could be passed on, but they will never develop the condition themselves or have any ill affect from it. Affected individuals will have 2 copies of the TNS gene, one inherited from each ‘carrier’ parent, and will develop the condition.

A pup from one ‘normal’ and one ‘carrier’ parent, may be either ‘normal’ or ‘carrier’ itself, but will never develop the condition, and would need a DNA test performed on a sample of its own blood to find out its status.

CEA (Collie Eye Anomoly)

CEA/CH stands for Collie Eye Anomaly / Choroidal Hypoplasia. This is an inherited eye condition, where parts of the inside of the eye do not develop normally. It is present at birth, and can normally be seen in affected pups from 6 weeks of age by a vet specialising in eye conditions by physical examination. It is non progressive, and in most cases only has a minimal affect on the dogs vision. In a few, very severe cases, the eye could haemorrhage internally leading to blindness.

 It is not possible for this physical examination to distinguish between genetically ‘normal’ or ‘carrier’ animals, which is where the DNA test comes into its own, telling us how many copies, if any, of the CEA/CH gene the individual has.

It is inherited ‘recessively’ in the same way as TNS, and so the same breeding results as for TNS will apply. No CEA gene = genetically clear. One copy of the CEA gene = carrier, but will never develop the condition. 2 copies of the CEA gene = clinically affected and has developed the condition.

CL (Ceroid Lipofuscinosis or Storage Disease)

This is a very rare inherited condition, but a particularly nasty one, where one of the enzymes that would normally remove certain waste products from the blood, is missing. These waste products then build up in the body’s cells, particularly in the brain, and as brain cells have very little room to contain this waste, pressure starts to build up, killing off healthy brain cells.

This can lead to unusual behaviour, problems with vision and movement, and demented behaviour. Symptoms do not normally show until around 18 months of age.

It is inherited recessively, the same as TNS and CEA/CH, and so the same breeding results apply. Fortunately the DNA test that is available allows breeders to ensure that they do not produce any affected pups.

An identical disease which occurs in humans, is known as Batten’s Disease.

If you think you would like your dog DNA tested for any of the above conditions, you can find more information at the bottom of the page. 

Goniodysgenesis (pre-disposition to glaucoma)

Goniodysgenesis is an abnormality within the eye & is associated with primary closed angle glaucoma. The fluid in the eye does not drain properly, resulting in excessive pressure build up, which if untreated will eventually cause permanent damage to the optic nerve & ultimately blindness.
Until 2018, the only method of testing for goniodydgenesis has been a clinical gonioscopy examination performed by a BVA eye panellist to assess the drainage angles of the eye.
In May 2018, The Roslin Institute published its research on the discovery of a genetic variant on the OLFML3 gene & Animal Genetics launched a DNA test for the pre-disposition to goniodysgenesis & glaucoma. The test verifies the presence of the recessive mutation & results are presented as one of the following:-
G/G ‘Affected’ – the dog carries two copies of the mutant gene & is very susceptible to developing glaucoma. It will always pass a copy of the mutation to its offspring.
N/G ‘Carrier’ – the dog has one copy of the OLFML3 mutation & there is a 50% probability that it can pass a copy of the defective gene to its offspring.
N/N ‘Clear’ – the dog has no OLFML3 mutation & cannot pass the defective gene to its offspring.

IGS (Imerslund-Grasbeck Syndrome (Cobalamin Malabsorption or Vitamin B12 Deficiency)

Imerslund-Gräsbeck Syndrome (IGS) is a genetic disorder by which the vitamin B12, also known as cobalamin, fails to be absorbed from the intestine. Lack of cobalamin leads to changes in the hematopoietic system and to neurological symptoms due to irreversible damage of the brain and nervous system. Symptoms include anorexia, lethargy and failure to gain weight.
IGS is caused by a recessive genetic mutation and the available DNA test determines the genetic status of the dog as one of the following:-
‘Clear’ (N/N): The dog is a non-carrier of the mutant gene and therefore cannot pass the mutant gene to its progeny. The dog will never develop Imerslund-Gräsbeck Syndrome.
‘Carrier’ (N/IGS): The dog carries one copy of the mutant gene and one copy of the normal gene. The dog will never develop Imerslund-Gräsbeck Syndrome but since it carries the mutant gene, it can pass it on to its progeny with the probability of 50%.
‘Affected’ (IGS/IGS): The dog carries two copies of the mutant gene and therefore it will pass the mutant gene to its entire progeny. The dog will develop Imerslund-Gräsbeck Syndrome.

DH(Dental Hypomineralisation, known as Raine’s Syndrome)

A severe neurological disease, SN is caused by the progressive degeneration of sensory and motor nerve cells. The onset of the disease occurs between 2 to 7 months of age and as quality of life is severely affected, dogs with SN are usually euthanised before two years of age. Symptoms include knuckling of the feet, self-mutilation wounds and incoordination of gait, with a progressive loss of sensation occuring in all limbs. Prognosis is poor as there is no effective treatment.

MDR1 (Multi Drug Resistance Gene)

The MDR1 gene is responsible for ensuring that the body’s natural P-glycoprotein functions normally by protecting the body from toxins.  In MDR1 affected dogs the function is compromised and therefore toxins (from environmental or administered toxins -drugs etc) may leak into the major organs.

SN (Sensory Neuropathy)

A severe neurological disease, SN is caused by the progressive degeneration of sensory and motor nerve cells. The onset of the disease occurs between 2 to 7 months of age and as quality of life is severely affected, dogs with SN are usually euthanised before two years of age. Symptoms include knuckling of the feet, self-mutilation wounds and incoordination of gait, with a progressive loss of sensation occuring in all limbs. Prognosis is poor as there is no effective treatment.

DM (Degenerative Myelopathy)

Is a disease that affects the spinal cord in dogs, causing progressive muscle weakness and loss of coordination. It acts similarly to Lou Gehrig’s disease, or ALS (Amyotrophic lateral sclerosis) in humans. The disease has an onset typically between 7 and 14 years of age. It begins with a loss of coordination (ataxia) in the hind limbs. The disease is chronic and progressive, resulting in paralysis.

The disease is believed to be an autosomal-recessive condition. This means that dogs that inherit two copies of an DM gene mutation (one from its mother and one from its father) will have an increased risk of developing the condition.

This disease is not fully understood and it is believed that environmental factors or other genetic influences can also contribute to whether a dog becomes affected. Having other factors that influence whether or not a dog is affected by this condition means that having two copies of the recessive mutant gene does not necessarily always result in clinical disease and similarly an absence of the gene is not a guarantee that the condition will not occur.

Since other factors can influence whether a dog becomes affected by this condition, unlike most other DNA tests, this test evaluates a dog’s risk of developing the disease, rather than giving a definitive result.

Physical Tests

PRA

Progressive retinal atrophy This is an hereditary eye condition, now thankfully rarely found in border collies, but is still one that is tested for regularly, it is Similar to retinitis pigmentosa in humans, and results in progressive degeneration of the retina, eventually leading to blindness.

At the moment we do not have a DNA test available for this condition, but hope to have one in the future.

It is diagnosed by physical examination by a vet specializing in eye conditions, normally when the dog is over one year of age as it is not visible in young pups. As it can appear as the dog gets older breeding animals should be tested for it on a regular basis.

Epilepsy

Seizures can be caused by a host of different circumstances. Reaction to vaccine or other medication, head trauma, blood clot, severe allergic reaction, high or low blood sugar, heavy infestation with parasites, tumour, high temperature with a fever & poison, to name a few.

Obviously none of the above are likely to be hereditary, and although they could lead to regular seizers, they are not true epileptic attacks.

Just like people, some dogs do have true epilepsy, and it can be controlled with drugs, There does seem to be a hereditary link in true epilepsy, but at the moment there is no clear indication as to how it is inherited.

No sensible breeder would intentionally breed from a dog that was likely to produce epilepsy, or one that had fitted itself, and research is currently underway in Finland, and at the animal health trust to try to find out more about this condition.

If and when the mode of inheritance is discovered, and a test developed, I am sure most breeders will be queuing up to ensure that their lines are free from this distressing condition.

Hip dysplasia

Hip dysplasia, (HD) is a common inherited orthopaedic problem of dogs and a wide number of other mammals, including humans. It is caused when the hip joint, which is a ‘ball & socket’ joint, does not develop properly, and as a result, the hip joint, is loose, or badly fitting.

In severe cases, the badly fitting joint can develop arthritis, or the hip can dislocate, causing pain and lameness in the dog. This can be helped with medication and/or surgery.

It is complicated in its mode of inheritance, and can also be influenced by the way a puppy is reared. Very few dogs ( of any breed) have perfect hips, x-raying, and ‘scoring’ the hips of dogs, before they are bred from, and then breeding from animals that have low ‘scores’ is the best way of trying to ensure that their puppies do not go on to develop bad hips.

Dogs hips can be x-rayed once they are over twelve months of age, and the x-ray plates are then sent off to a panel of experts, who examine them, and measure the angles of the joints within different areas of the hip. They then give a score for each hip, from 0 – the best possible to 53 the very worst case. This is normally shown as L 0 – R 0 up to L 53 –R 53. Often these are just totalled up so that a dog that may have a score of L3 – R 4 would be said to have a total score of 7.

Remember that the total worst score a dog can have is total 106, so 7 would be considered as a very good score, and would not cause problems at all for the dog concerned. The average score, at the moment, in border collies is 13, so by breeding from parents, that do not have scores above average, there is a very good chance that the pups will also go on to develop good, low scoring hips.

Because the way HD is inherited, there can be no guarantee that low scoring parents will produce only low scoring pups, but it should help. Hips can also be made worse by environmental factors as the pup develops. Allowing a pup to become overweight, incorrect diet, over exercising, putting abnormal excess strain on soft joints that are still developing by encouraging such activities as racing up and down stairs, jumping on and off furniture, jumping up and down at fences etc. can all put a strain on the joints, and result in a poor hip score. Injury can also lead to a bad score, and there is no way for the experts to tell if excess wear has been caused by damage or development.

Elbow Dysplasia 

Elbow dysplasia is a condition involving developmental abnormalities of the elbow joint, specifically the growth of the cartilage or the structures surrounding it.  These abnormalities give rise to osteoarthritic processes.
Elbow x-raying by a veterinary surgeon & subsequent submission to the BVA for scoring is a procedure to establish the condition of the dogs elbows.

Deafness.

It is believed that deafness could be hereditary, but at the moment, it is not clear to what degree.

Special tests are available called BAER Hearing Testing, which involve putting tiny needles into a dogs scalp, and then getting a computerised read out of its brain waives as clicking noises are made close to each ear, one ear at a time. This can show the degree of hearing ability in each ear, and can be carried out on any dog over about 6 weeks of age.

It can not tell if a particular dog, will go on to produce puppies with perfect or defective hearing. Unfortunately it is not yet clear how deafness is inherited, and deaf, or partially deaf pups can be produced from two parents with perfectly normal hearing.

At least one test mating has been done with Dalmatians, who have quite a serious problem with deafness within the breed, where two completely deaf dogs were bred together and produced a litter of pups all with perfectly normal hearing !

There does seem to be some evidence that dogs that have a lot of white on them, are more likely to have hearing problems than darker dogs, but this is in no way conclusive.

While it would be quite difficult to train a dog that is completely deaf, and not something to be undertaken lightly, a dog with partial hearing can lead a perfectly normal life, and puppies that are completely deaf should be fairly easily identified by an observant breeder at an early age.

Having breeding animals tested, could help reduce the chances of producing puppies with the problem, but is not a 100% guarantee. Studies are being made into the mode of inheritance for deafness, and should a gene responsible for the condition be discovered, I am sure breeders will leap at the chance to get breeding stock tested.

B.A.E.R testing.

The Kennel Club will now be recording BAER (Brainstem Auditory Evoked Response) test results for all breeds and publishing the results on the Health Test Results Finder There is a new standard reporting form  to help the testing centres with the process of sending BAER test results for litters to the Kennel Club more efficiently. All dog owners and breeders are encouraged to bring this form to their testing centre. To ensure results may be recorded: Dogs must be registered and microchipped · The form must be completed by the vet practice, signed by a vet/nurse and with a veterinary practice stamp · Forms, which can be submitted by post or email, must be clear and legible – results will not be recorded if they cannot be read.