AUSTRALIAN WORKING BORDER COLLIE REGISTRY!

Promoting the Working Border Collie in Australia

AWBCR Health Page

While it is not compulsory to do DNA testing to be a member and register a litter or dog with the AWBCR we do strongly recommend DNA testing before any joining. Our rules for membership and breeding can be found here.

The health page is intended to help you to understand the diseases that can occur within the Working Border Collie and provide information about DNA testing that is available.  This information is for both the person wishing to purchase a Working Border Collie puppy and breeders of Working Border Collies.

CEA

Collie Eye Anomaly (autosomal recessive) is an inherited disease that causes defects in the formation of the eye resulting in visual impairment. Severity of the disease varies. The mild form, choroidal hyperplasia (CH), does not cause visual defects and blindness.  Severely affected dogs have colobomas which can result in retinal detachments and bleeds causing blindness. This can occur in pups or suddenly and usually by the time a dog is 2 years old.

TNS

Trapped Neutrophil Syndrome (autosomal recessive) is an hereditary disease where the bone marrow produces neutrophils (white cells) but is unable to effectively release them into the bloodstream. Affected puppies have an impaired immune system and will eventually die from infections they cannot fight. Symptoms can be variable these may include failure to thrive, poor growth, weight loss, lethargy, diarrhea and vomiting. Affected dogs may also present with active respiratory, skin, eye or ear infections and often have painful legs.

There is no cure for TNS and pups often succumb to an infection by around 4-6 months of age.

SN

Sensory Neuropathy (autosomal recessive) is a progressive, severe neurological disease caused by degeneration of nerve cells. Affected dogs present between 2-7 months of age. Affected dogs lose feeling in the limbs and develop an inability to recognise the position of limbs in space. Hind limbs tend to be more severely affected than front limbs. Affected dogs will often chew on their lower limbs and feet as they lose feeling resulting in severe wounds. Clinical signs include ataxia, abnormal gait, muscle atrophy, knuckling of the paws and hyperextended limbs. Urinary incontinence and regurgitation may occur as the disease progresses.

Affected dogs are often euthanased within 18 months of diagnosis due to quality-of-life concerns.

Mainly found in dogs of ISDS origin including carrier dogs imported into Australia.

MDR1

Multidrug Resistance 1 (autosomal dominant) is where your affected dog is predisposed to adverse drug reactions caused by some classes of drugs which include ivermectin as well as some gastroprotectant and anti-cancer medications. These include acepromazine, butorphanol, doxorubicin, emodepside, erythromycin, ivermectin, loperamide, milbemycin, moxidectin, rifampin, selamectin, vinblastine and vincristine. 

You should notify your vet if your dog is at risk for MDR1 prior to the administration of any medications.

EAOD

Early Adult-Onset Deafness (recessive) symptoms are Progressive hearing loss usually observed between the age of 5-7 years but may be noticed at 18 - 24 months and as late as 8 -10 years old. 

US working border collie owners identified the problem with adult onset hearing loss in the prime of a working dog's life around 20 years ago. Research has been undertaken for 15 + years with initial funding from the American Border Collie Association. Because it appears to affect a dog unilaterally then bilaterally, it is often not identified until the dog is nearly completely deaf.

Cobalamin Malabsorption

An inherited (autosomal recessive) gastrointestinal disease where dogs are unable to absorb Vitamin B12 through the gut. Affected dogs are unable to make adequate amounts of a protein that plays a role in the absorption of nutrients from the gut, including Vit B12 (cobalamin). Symptoms are variable and seen from 3+ months to young adults. These include anorexia, lethary, poor weight gain, poor muscle mass and general malaise that intensifies after eating.

Many dogs are undiagnosed which leads to an extremely painful condition due an ulcerated gut. The condition can be successfully managed by monthly Vit B12 injections for life if caught in time.

Rain Syndrome/Dental Hypomineralisation

is a (autosomal recessive) developmental tooth disease affecting border collies. It causes severe tooth wear resulting in pulpitis requiring extraction of those teeth. Affected dogs have inadequate mineralization of teeth resulting in brittle, light to dark brown teeth which are prone to cracking and severe, premature wear of the chewing surfaces. Over time, excessive wear of tooth enamel often results in exposure of inner tooth pulp causing severe pain and inflammation as well as increasing risk of oral infection and irreparable damage to teeth.

Treatment is extraction of all teeth and/or very expensive capping. 

NCL5

Neuronal Ceroid Lipofuscinosis (autosomal recessive) is an inherited neurodegenerative, lysosomal storage disease, which is not contagious, but it is fatal and cannot be treated. It affects the nervous system including the brain. Affected animals appear normal until aged approx. 15 months. Symptoms Include behavioral abnormalities, such as personality changes and aggressiveness, mental retardation and/or dementia; motor disturbances, such as ataxia and incoordination; visual problems leading to central and/or retinal blindness; premature death. The progress and effect of the symptoms will steadily continue to deteriorate and medication cannot improve the condition.

Affected animals have all been euthanized by the age of 3½ years.

CA

Cerebellar Abiotrophy (autosomal recessive) is caused by degeneration of neurons in the cerebellar cortex. Two forms of the disease were identified in kelpies which correlate with similar symptoms in border collies from Australian working and ANKC lines. These are the two forms of the disease: An Early Onset Form (4-16 wo) which appears to be recessive with possible low penetrance and a Late Onset Form (4mo +) which appears to be recessive. Symptoms can range from mild with a noticeable intention tremour with barely noticeable incoordination and a high stepping gait, to sever which includes a pronounced intention tremour, complete lack of coordination and occasional fitting. The late onset form has a poor prognosis, and most pups are euthanized by 8-10 mo. Dogs with the early onset form can have mild symptoms and live a normal lifespan. Both forms are found in border collies.


HD

Dysplasia in dogs is a disease that is characterised by instability of the hip joint (laxity), pain and eventually degenerative joint disease. It is considered to be inherited as a polygenic character (that is many genes are involved) and may be modified by many nongenitic factors. These non genetic factors are diet, rate of growth, body weight and exercise. . It must be remembered, however, that these environmental factors do not cause HD. They merely affect whether the HD genes present in that individual will be expressed to the fullest. Even if the expression of HD in a certain individual is suppressed by careful control of environmental factors, you have not changed the dog's genetic makeup. That dog will still pass on the genetic tendency for HD just as if it actually had the disease. Conversely, if a dog does not have the genes for HD, it won't develop the disease no matter how it's raised.

 

Terminology used on DNA disease results. 

While the reports from different DNA companies differ, the results for each disease or trait should be reported as:

Normal/Clear - 2 normal copies of the gene. This means that the tested dog is completely free of the disease/trait and does not carrying the mutant gene which will produce the disease.

Carrier - positive one copy. This means that the tested dog has one normal and one mutant copy of the gene. The dog does not have the disease but carries a copy of the gene which may be passed on to their progeny (see diagram below).  A dog that is a carrier of a disease can be mated with another that is clear and all of the progeny from this litter will be free of the disease, some progeny can be carriers. Under no circumstances should a carrier of a disease be mated with another carrier or affected for the same disease.

At Risk/Affected - positive two copies. Dogs has two copies of the mutant gene.  A dog which is at risk/affected will either have or develop the disease during its lifetime. For CEA and EAOD ONLY can be breed with another dog that is clear of the same disease and all of the puppies from the mating will be not affected but will all be carriers.

Clear by Parentage - where both parents have been DNA tested clear for that disease.  This should only be relied upon where parentage of the pup has been confirmed by DNA profiling.  It is advisable to test all breeding stock prior to breeding.

Main Types of Inheritance

Autosomal Recessive - 2 copies of the mutant gene must be present to develop the disease, one from each parent.

Autosomal Dominant - only 1 copy of the mutant gene is necessary for the disease to develop (this means that 'carriers' are more correctly described as "at risk").

Breeding Strategies

Predicted outcomes using Clear (green), Carrier (orange) and At Risk/Affected (red) parents

Want to do testing.....

The AWBCR have a club membership with Orivet which gives you a discounted rate, if you wish to know more about this then contact Peta Aitchison at awbcrtreasurer@gmail.com or you can download instructions here

Orivet - Aust (CEA, NCL5, TNS, Raines, MDR1, SN, DM, CM, EAOD - research only)

Dog Breeding Science - Aust (CA - cerebellar abiotrophy - early and late onset markers) While this is a Kelpie Disease it has been found in the working border collie population.

There are other international companies that you can also do testing through; MyDogDNA (Finland), Embark (USA) & PawPrint Genetics (USA)

Thank you to Karen Edwards for all the health information that she supplied for this page.