Border Collie Health

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Hereditary Diseases In Border Collies

Border Collies are a generally healthy breed although there are a number of hereditary diseases that occur in the breed.  Fortunately, for many diseases, DNA and/or physical tests are available, so that reputable breeders can test their breeding stock to ensure that no puppies are affected by any of these diseases. Having said that, the incidence of these disease amongst the Border Collie population is small. 

These Health pages are intended to help you to understand the diseases that can occur in Border Collies and provide information about DNA testing that is available.  The information is for both the person wishing to purchase a Border Collie puppy and breeders of Border Collies.

When choosing a puppy, please ensure that the DNA status of your puppy is given to you by the breeder i.e. ask them for the parent's DNA results and if parentage testing has been done.  If you are breeding a litter, ensure that the DNA status of the sire and dam is fully understood, and that copies of appropriate certificates are obtained.  Copies of the DNA test results for the sire and dam, and hip/elbow scoring results should be made available to puppy buyers.

More health information is available from the National Border Collie Council

Terminology Used on DNA Disease Panels

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, Carrier and Affected Parents


Diseases for which a DNA Test is Available for Border Collies

Collie Eye Anomaly/ Choroidal Hypoplasia (CEA/CH)

Trapped Neutrophil Syndrome (TNS)

Neuronal Ceroid Lipofuscinosis 5 (NCL5)

Raine Syndrome /Canine Dental Hypomineralisation (RS or DH)

Imerslund-Grasbeck Syndrome (IGS) [aka Intestinal Cobalamin (Vit B12) Malabsortion (ICM)]

Sensory Neuropathy (SN)

Degenerative Myelopathy (DM)

Multi Drug Resistance (MDR1)


Early Adult Onset Deafness (EAOD)

Cerebellar Abiotrophy (CA)


Diseases with no DNA Test

Hip/Elbow Dysplasia (HD and ED) - Xrays and Scoring (ANKC CHEDS)

Eye Diseases - Glaucoma, PRA, PLL - examinations/screening by Canine Opthalmologist (ANKC ACES)

Congenital Sensorineural Deafness - BAER testing of puppies

Osteochondritis Dissecans (OCD)

Discoid Lupus (Collie Nose)


Border Collie Collapse (BCC)

Cryptorchid (Undescended Testicles)

Cystinuria III (needs clinical diagnosis from urine sample)

NOTE - The PLL, cystinuria II and vWII tests included by some labs (eg Orivet) are irrelevant to BCs. The PLL test is NOT the marker for PLL in BCs and the vWII marker is not a causal mutation for any breed. The causal mutation for PLL in BCs in not known. THe DNA test for cystinuria II is not relevant to BCs, they can be affected by cystinuria III for which no test is available.


Where to get DNA Testing Done

This is a sample of testing labs that offer Border Collie tests (key tests are listed; panels include a number of additional tests and traits but not all are applicable to Border Collies).  There are many other labs worldwide that offer stand alone tests.  Visiting these web sites is a good place to get further information.  In particular, PawPrint Genetics is an excellent resource as they provide detailed descriptions and cite the key research literature for each disease.

Orivet  -  Aust (CEA, NCL5, TNS, Raines/DH, MDR1, IGS/ICM, SN, DM, goniodysgenesis, EAOD - old single marker)

Embark  -  USA (CEA, NCL5, TNS, Raines/DH, MDR1, IGS/ICM, SN, DM, goniodysgenesis)

PawPrint Genetics  -  USA (CEA, NCL5, TNS, Raines/DH, IGS/ICM, MDR1, SN, DM, goniodysgenesis). See also Canine Health Check panel from PPG.

MyDogDNA  -  UK (CEA, TNS, NCL5, Raines/DH, IGS/ICM, MDR1, SN, DM, goniodysgenesis, EAOD -current 4 markers)

Dog Breeding Science  -  Aust (CA - cerebellar abiotrophy - early and late onset markers)