Hereditary Conditions
To be considered a genetic disease, a condition has to be demonstrated to be heritable (passed on through one or both parents). Some diseases are highly heritable meaning that if the genes are present the dog will be affected, and others are considered low heritability, where both genetic and environmental factors influence whether it occurs. It is generally easier to control those with high heritability, as the dogs with the relevant genes can be identified and not included in breeding programs. Genetic/heritable diseases are separate from congenital diseases or defects, which are present from birth but not necessarily heritable.
The most concerning hereditary conditions affecting Border Collies are those that are fatal. Testing is available to ensure that no puppies should ever be born at risk of developing these conditions. If your breeder is unable to show you test results proving that one or both parents is Normal/Clear for at a minimum these conditions, you should walk away.
Neuronal Ceroid Lipofuscinosis 5 (NCL5)
Known as Battens Disease in humans, NCL5 is a lysosomal storage disease which affects the nervous system including the brain. Affected animals appear normal until approximately 15 months of age, from when symptoms develop such as personality changes, aggression, mental retardation or dementia, incoordination, visual problems leading to blindness, seizures and premature death. Symptoms will continue to progress and deteriorate, and there is no medication that can improve this condition. Affected dogs are all euthanised by 3.5 years.
Trapped Neutrophil Syndrome (TNS)
TNS is a condition where the bone marrow produces neutrophils (a type of white blood cell that is the first line of defence in the immune system) but they are not released into the blood stream. This results in an impaired immune system which can not fight infections. Commonly, the first signs will be a puppy that has a bad reaction to vaccinations with a fever. Other symptoms include failure to thrive, poor growth, weight loss, lethargy, diarrhoea and vomiting. Affected dogs can also present with respiratory, skin, eye or ear infections and often have painful legs. They may be small and have a narrow, elongated, ferret-type head. There is no cure and puppies usually succumb to infection by 4-6 months.
Sensory Neuropathy (SN)
SN is a neurological disease caused by degeneration of nerve cells. Affected dogs present between 2-7 months of age and lose feeling in all legs, developing an inability to recognise the position of their limbs. Symptoms include ataxia (clumsy walking/balance), abnormal gait, knuckling of the paws and hyperextended limbs. Urinary incontinence and regurgitation may occur as the disease progresses. Hind legs are usually more severely affected than front legs. They will often chew on their lower limbs and feet as they lose feeling, resulting in severe wounds. Affected dogs are usually euthanised within 18 months of diagnosis due to quality of life concerns.
For more detailed information about these and other hereditary conditions and testing, please download the following document.
The most concerning hereditary conditions affecting Border Collies are those that are fatal. Testing is available to ensure that no puppies should ever be born at risk of developing these conditions. If your breeder is unable to show you test results proving that one or both parents is Normal/Clear for at a minimum these conditions, you should walk away.
Neuronal Ceroid Lipofuscinosis 5 (NCL5)
Known as Battens Disease in humans, NCL5 is a lysosomal storage disease which affects the nervous system including the brain. Affected animals appear normal until approximately 15 months of age, from when symptoms develop such as personality changes, aggression, mental retardation or dementia, incoordination, visual problems leading to blindness, seizures and premature death. Symptoms will continue to progress and deteriorate, and there is no medication that can improve this condition. Affected dogs are all euthanised by 3.5 years.
Trapped Neutrophil Syndrome (TNS)
TNS is a condition where the bone marrow produces neutrophils (a type of white blood cell that is the first line of defence in the immune system) but they are not released into the blood stream. This results in an impaired immune system which can not fight infections. Commonly, the first signs will be a puppy that has a bad reaction to vaccinations with a fever. Other symptoms include failure to thrive, poor growth, weight loss, lethargy, diarrhoea and vomiting. Affected dogs can also present with respiratory, skin, eye or ear infections and often have painful legs. They may be small and have a narrow, elongated, ferret-type head. There is no cure and puppies usually succumb to infection by 4-6 months.
Sensory Neuropathy (SN)
SN is a neurological disease caused by degeneration of nerve cells. Affected dogs present between 2-7 months of age and lose feeling in all legs, developing an inability to recognise the position of their limbs. Symptoms include ataxia (clumsy walking/balance), abnormal gait, knuckling of the paws and hyperextended limbs. Urinary incontinence and regurgitation may occur as the disease progresses. Hind legs are usually more severely affected than front legs. They will often chew on their lower limbs and feet as they lose feeling, resulting in severe wounds. Affected dogs are usually euthanised within 18 months of diagnosis due to quality of life concerns.
For more detailed information about these and other hereditary conditions and testing, please download the following document.
The Testing Information for Breeders and Puppy Buyers document also lists the most current DNA and physical tests available for Border Collies (as of December 2021). Some tests have been available for many years, whilst some have emerged only recently. For breeders, links for laboratories providing tests will also be provided at the end of the document.
It should be noted, however, that some conditions are not yet testable, as the genetic mutations that are responsible for causing these is not yet known. As a result, these conditions cannot be fully prevented by DNA testing. Ethical breeders who have a deep understanding of the ancestry, or lines, of their breeding dogs can try to prevent these disorders by avoiding using affected dogs or lines with related symptoms. These conditions are also listed.
The National Border Collie Council with whom the Border Collie Club of South Australia is affiliated has a Health Sub-Committee dedicated to developing policy on the health of the breed, including the prevention of ill-health and the reduction of health problems, especially preventable genetic diseases. They provide an educational role and source of up-to-date well-researched information on health and diseases in Border Collies and make recommendations as necessary to the NBCC/Breed Clubs. You will find the most up-to-date and accurate information regarding Border Collie genetic diseases and testing using the below link.
It should be noted, however, that some conditions are not yet testable, as the genetic mutations that are responsible for causing these is not yet known. As a result, these conditions cannot be fully prevented by DNA testing. Ethical breeders who have a deep understanding of the ancestry, or lines, of their breeding dogs can try to prevent these disorders by avoiding using affected dogs or lines with related symptoms. These conditions are also listed.
The National Border Collie Council with whom the Border Collie Club of South Australia is affiliated has a Health Sub-Committee dedicated to developing policy on the health of the breed, including the prevention of ill-health and the reduction of health problems, especially preventable genetic diseases. They provide an educational role and source of up-to-date well-researched information on health and diseases in Border Collies and make recommendations as necessary to the NBCC/Breed Clubs. You will find the most up-to-date and accurate information regarding Border Collie genetic diseases and testing using the below link.
To assist in making health testing accessible and encouraging breeders to undertake as many of the available tests as possible, the Border Collie Club of South Australia hosted a Health Clinic in October 2023 with discounted ACES eye screening, DNA swabbing and we also collected samples to send to the University of Minnesota for their ongoing study into Border Collie Collapse. We intend to continue holding these Health Clinics and encourage all current and future breeding stock to attend.
Please use the following buttons to find out more.