Border Collie health checklist

Intestinal cobalamin malabsorption (Imerslund-Gräsbeck syndrome, CUBN)Common in this breed

An inherited inability to absorb vitamin B12 from the gut: affected puppies fail to thrive, but lifelong B12 supplements keep them well. The Border Collie has its own CUBN variant. It is recessive, and roughly one Border Collie in fourteen carried it in a screen of more than 6,700.

Ask to see: Intestinal cobalamin malabsorption (CUBN, Border Collie type) DNA test result, on both parents

Owczarek-Lipska et al. 2013, PLoS One (https://doi.org/10.1371/journal.pone.0061144) · Donner et al. 2023, PLOS Genetics (Table S3, Border Collie row) (https://doi.org/10.1371/journal.pgen.1010651)

Hip dysplasiacan shorten life or cause chronic painCommon in this breed

Malformation of the hip joint causing pain, lameness and early arthritis. In Swedish screening of 2,831 young adult Border Collies (2007 to 2016), about one in seven had hip dysplasia graded mild or worse (FCI C to E), though only about one in forty was moderate or severe.

Ask to see: Hip score from a recognised scheme (FCI, BVA/KC or OFA) on both parents

Engdahl et al. 2026, Veterinary Record (https://doi.org/10.1002/vetr.70224)

Shoulder osteochondrosis and osteochondritis dissecans (OCD)can shorten life or cause chronic painCommon in this breed

A fault in how the growth cartilage at the back of the head of the upper arm bone turns into bone while the puppy grows; the weakened area can crack into a loose flap (osteochondritis dissecans) and can cause foreleg lameness, and affected joints develop arthritis more often. Its causes are thought to include heredity, fast growth and over-feeding; no heritability estimate exists for this breed. In Swiss breeding screening of 511 Border Collies (2003 to 2013), 39 (about one in thirteen) had it on shoulder X-rays, a loose mineralised flap being seen in only 3 of the 45 affected joints; the authors expect the true figure to be higher, because X-rays of lame dogs are rarely sent in for scoring.

Ask to see: Shoulder X-rays of both parents, officially scored for osteochondrosis (compulsory for breeding Border Collies in Switzerland)

Ohlerth et al. 2016, Schweizer Archiv für Tierheilkunde (https://doi.org/10.17236/sat00091)

Collie eye anomaly (CEA / choroidal hypoplasia)can shorten life or cause chronic pain

A congenital defect in how the back of the eye develops, present from birth, ranging from a small blind spot with no effect on vision to retinal detachment and blindness in the more severe form. Mild cases are easy to overlook without an early exam.

Ask to see: A DNA test for the NHEJ1 gene deletion, on both parents — or, if DNA status is unknown, an eye examination by a veterinary ophthalmologist at 6–8 weeks old, before secondary changes can mask a mild case. For the parents, a current ECVO eye certificate, renewed every year.

OFA — Collie Eye Anomaly (https://ofa.org/collie-eye-anomaly/) · Collie Health Foundation — Choroidal Hypoplasia / CEA Mutation (https://www.colliehealth.org/cea-mutation/) · Donner et al. 2023, PLOS Genetics (Table S3, Border Collie row) (https://doi.org/10.1371/journal.pgen.1010651) · ECVO Manual — Border Collie (known and presumed hereditary eye diseases) (https://www.ecvo.eu/media/bordercollie.pdf) · ECVO Manual — Age and frequency recommendations for eye examinations (https://www.ecvo.eu/media/7-ecvo_age_and_frequency_recommendations.pdf)

Trapped neutrophil syndrome (TNS)can shorten life or cause chronic pain

An inherited immune deficiency in which infection-fighting white blood cells cannot leave the bone marrow properly, leaving affected puppies with recurrent infections and poor growth. It is typically fatal, or requires euthanasia, in puppyhood.

Ask to see: A DNA test for the VPS13B mutation, on both parents.

Trapped Neutrophil Syndrome (TNS) in Border Collies — UC Davis Veterinary Genetics Laboratory (https://vgl.ucdavis.edu/test/tns-border-collie) · Donner et al. 2023, PLOS Genetics (Table S3, Border Collie row) (https://doi.org/10.1371/journal.pgen.1010651)

Neuronal ceroid lipofuscinosis (NCL5)can shorten life or cause chronic pain

A fatal, inherited storage disease in which waste products build up in nerve cells. Affected dogs develop behavioural change, loss of coordination and seizures from around 15–20 months old and rarely survive past 32 months. There is no treatment.

Ask to see: A DNA test for the CLN5 nonsense mutation, on both parents.

A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs (PubMed) (https://pubmed.ncbi.nlm.nih.gov/16033706/) · NCL5 — Neuronal Ceroid Lipofuscinosis 5 (Embark) (https://embarkvet.com/products/dog-health/health-conditions/neuronal-ceroid-lipofuscinosis-5-ncl-5/) · Donner et al. 2023, PLOS Genetics (Table S3, Border Collie row) (https://doi.org/10.1371/journal.pgen.1010651)

Multidrug sensitivity (MDR1)

A mutation in the ABCB1 (MDR1) gene disables a protein that normally pumps certain drugs out of the brain, so an affected dog can react to standard doses of drugs such as ivermectin, loperamide or acepromazine with tremors, disorientation or collapse. The Border Collie carries the same mutation as the classic working Collie, but at a much lower frequency in the breed.

Ask to see: A DNA test for the ABCB1 4-base-pair deletion — UC Davis's Veterinary Genetics Laboratory explicitly lists Border Collie as a breed appropriate for this test. The result matters most as information to give a vet before anaesthesia, sedation or antiparasitic treatment, not as a breeding disqualifier on its own.

Multidrug Sensitivity (MDR1) — UC Davis Veterinary Genetics Laboratory (https://vgl.ucdavis.edu/test/multidrug-sensitivity-mdr1) · Donner et al. 2023, PLOS Genetics (Table S3, Border Collie row) (https://doi.org/10.1371/journal.pgen.1010651)

Early adult-onset deafness

A hearing loss that starts in young adults, usually at three to five years old, much earlier than age-related deafness. It appears to be inherited, but its genetics are complex: a study found regions of the genome associated with it, not a single causal variant.

Ask to see: No DNA test identifies its cause. Ask whether the parents or their close relatives lost their hearing as young adults; a BAER hearing test confirms it.

Yokoyama et al. 2012, PLOS Genetics (https://doi.org/10.1371/journal.pgen.1002898)

Goniodysgenesis and glaucoma (OLFML3)can shorten life or cause chronic pain

An inherited malformation of the eye's drainage angle that first emerged in Border Collies in Australia in the late 1990s and has since been found in Europe and the USA; in its severe form it leads to glaucoma, which is painful and can blind. It is recessive.

Ask to see: Goniodysgenesis (OLFML3) DNA test result, on both parents, plus a gonioscopy eye exam on an ECVO eye certificate, repeated every three years

Pugh et al. 2019, G3 (https://doi.org/10.1534/g3.118.200944) · Oliver et al. 2020, Veterinary Ophthalmology (https://doi.org/10.1111/vop.12680) · ECVO Manual — Border Collie (known and presumed hereditary eye diseases) (https://www.ecvo.eu/media/bordercollie.pdf) · ECVO Manual — Age and frequency recommendations for eye examinations (https://www.ecvo.eu/media/7-ecvo_age_and_frequency_recommendations.pdf)

Hereditary calcium oxalate urolithiasis type 1 (CaOx1)

An inherited tendency to form calcium oxalate stones in the bladder or kidneys, caused by a variant in uromodulin, a protein in urine that normally stops crystals forming; stones are usually found at around three years old and often come back. It is recessive — dogs with two copies are at risk, carriers usually are not. The university laboratory that identified it reports it in this breed but has not published how common it is.

Ask to see: Hereditary calcium oxalate urolithiasis type 1 (CaOx1) DNA test result, on both parents

University of Minnesota Canine Genetics Lab — Hereditary Calcium Oxalate Urolithiasis (https://canine-genetics.umn.edu/hereditary-calcium-oxalate-urolithiasis-type-1) · Furrow et al. 2024, Journal of Clinical and Translational Science (abstract: the uromodulin variant) (https://doi.org/10.1017/cts.2024.373)

Dental hypomineralisation (FAM20C)Rare in this breed

An inherited weakness of the tooth enamel and dentine described in this breed: the teeth wear down severely, so the pulp becomes exposed and painful and teeth have to be extracted. It is recessive, and roughly one Border Collie in forty-eight carried it in a screen of more than 6,700.

Ask to see: Dental hypomineralisation (FAM20C) DNA test result, on both parents

Hytönen et al. 2016, PLOS Genetics (https://doi.org/10.1371/journal.pgen.1006037) · Donner et al. 2023, PLOS Genetics (Table S3, Border Collie row) (https://doi.org/10.1371/journal.pgen.1010651)

Sensory neuropathy (FAM134B)can shorten life or cause chronic painRare in this breed

A severe inherited degeneration of the nerves that carry sensation, described in this breed: signs start between two and seven months old, and affected dogs lose feeling in their feet and legs, so they can injure themselves without noticing. It is recessive, and roughly one Border Collie in seventy carried it in a screen of more than 6,700.

Ask to see: Sensory neuropathy (FAM134B inversion) DNA test result, on both parents

Forman et al. 2016, G3 (https://doi.org/10.1534/g3.116.027896) · Donner et al. 2023, PLOS Genetics (Table S3, Border Collie row) (https://doi.org/10.1371/journal.pgen.1010651)

Elbow dysplasiacan shorten life or cause chronic painRare in this breed

Developmental abnormalities of the elbow joint causing pain, lameness and a predisposition to arthritis. It is uncommon in this breed: in Swedish screening of 1,099 young adult Border Collies (2007 to 2016), 25 (about one in forty-four) had elbow dysplasia of any grade, all but two of them mild, and in UK primary-care records Border Collies were no more likely than crossbreeds to be diagnosed with elbow disease.

Ask to see: Elbow score from a recognised scheme (FCI/IEWG, BVA/KC or OFA) on both parents

Engdahl et al. 2026, Veterinary Record (https://doi.org/10.1002/vetr.70224) · O'Neill et al. 2020, Canine Medicine and Genetics (https://doi.org/10.1186/s40575-020-0080-5)

Hyperuricosuria (HUU)Very rare in this breed

An inherited high level of uric acid in the urine (SLC2A9 gene) that makes urate bladder and kidney stones likely; a stone blocking a male dog's urethra is an emergency. It is recessive. It has been found in this breed but is very rare — a handful of carriers among more than 6,700 Border Collies screened. Once known, it can be managed with diet and monitoring.

Ask to see: Hyperuricosuria (SLC2A9) DNA test result, on both parents

Donner et al. 2023, PLOS Genetics (Table S3, Border Collie row) (https://doi.org/10.1371/journal.pgen.1010651)

Myotonia congenita (CLCN1)Very rare in this breed

An inherited muscle disorder first described in an Australian Cattle Dog: the muscles relax slowly after contracting, so the dog is stiff, especially after rest, with bulky muscles, and the stiffness often eases with exercise. It is recessive. The same variant has been found in this breed — roughly one Border Collie in two hundred and thirty carried it in a screen of more than 6,700.

Ask to see: Myotonia congenita (CLCN1, Australian Cattle Dog type) DNA test result, on both parents

Donner et al. 2023, PLOS Genetics (Table S3, Border Collie row) (https://doi.org/10.1371/journal.pgen.1010651) · Finnigan et al. 2007, Journal of Veterinary Internal Medicine (https://doi.org/10.1892/0891-6640(2007)21[458:anmotc]2.0.co;2)