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Genetic Health Testing for Australian Shepherds

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Australian Shepherd

Embark for Breeders offers 12 breed-specific genetic health tests for the Australian Shepherd among the 250+ genetic health conditions for which Embark tests. Breeders can easily share breed-specific DNA test results on parents or puppies with the one-page DNA Health Summary report with Embark test results.  

Genetic health testing is an integral part of a responsible dog breeding program. When using genetic health testing, breeders need to educate themselves about concepts such as modes of inheritance, penetrance, prevalence, and phenotype for a specific variant in their breed to apply test results. Breeders also need to know which variants are causing health concerns in their breed and which health conditions currently have no genetic test available. This handy search function by breed or health condition can show breeders which DNA tests Embark provides. 

Embark DNA tests for the Australian Shepherd include the following conditions. The health condition percentages based on clear, carrier, and at-risk status presented on common, rare, and very rare genetic risk factors are based on a subset of dogs within the Embark database and do not necessarily represent all dogs of this breed. While we cannot provide specific population numbers at this time, we believe the data provided here to be sufficient to inform on current trends within the North American population of Australian Shepherds. 

Common genetic health risk factors <95% clear rate

These are the most common genetic conditions based on Embark data, ranked from most to least prevalent in the Australian Shepherd, with less than 95% of dogs testing clear. 

MDR1 Drug Sensitivity (ABCB1)

Sensitivity to certain classes of drugs, notably the parasiticide ivermectin, as well as certain gastro protectant and anti-cancer medications, occurs in dogs with a mutation in the ABCB1 gene. The mode of inheritance is codominant. 

  • Based on Embark-tested Australian Shepherds that have opted into research, here’s a snapshot of the breed today: 69.7% of dogs tested clear, 2.9% tested at-risk, homozygote codominant, and 27.3% tested at-risk, heterozygote codominant for MDR1 Drug Sensitivity (ABCB1). 

Citations: Mealey et al 2001 Han et al 2010 Neff et al 2004 Barbet et al 2009 Gramer et al 2011

Degenerative Myelopathy, DM (SOD1A)

The dog equivalent of Amyotrophic Lateral Sclerosis, or Lou Gehrig’s disease, DM is a progressive degenerative disorder of the spinal cord. Because the nerves that control the hind limbs are the first to degenerate, the most common clinical signs are back muscle wasting and gait abnormalities. The gene is SOD1A*, and the mode of inheritance is recessive. 

* SOD1A vs SOD1B

Please note: While we test for the SOD1A variant, we do not test for the SOD1B (Bernese Mountain Dog type) variant at this time. Degenerative Myelopathy genotype results apply only to SOD1A.

  • Based on Embark-tested Australian Shepherds that have opted into research, here’s a snapshot of the breed today: 81.6% of dogs tested clear; 17.4% tested as carriers, heterozygote recessive, and 0.8% at risk, homozygote recessive for Degenerative Myelopathy, DM (SOD1A).

Citations:  Awano et al 2009, Shelton et al 2012, Capuccio et al 2014 

Hereditary Cataracts, Early-Onset Cataracts, Juvenile Cataracts (HSF4 Exon 9, Australian Shepherd Variant)

Cataracts are the result of a progressive disease of the lens. The lens is normally a transparent structure of precisely organized fibers that lives in the pupil and focuses light. Cataracts cause the lens fibers to become disordered and turn the lens into a milky blue color. The lens is no longer transparent, light fails to reach the retina, and blindness is the end result. With this genetic mutation, dogs can develop cataracts in only a few weeks to months. The mode of inheritance is dominant. 

  • Based on Embark-tested Australian Shepherds that have opted into research, here’s a snapshot of the breed today: 90.6% of dogs tested clear, 0.3% tested at-risk, homozygote codominant, and 8.3% tested at-risk, heterozygote codominant for Hereditary Cataracts, Early-Onset Cataracts, Juvenile Cataracts (HSF4 Exon 9, Australian Shepherd Variant)

Citations: Mellersh et al 2006a Mellersh et al 2009

Collie Eye Anomaly, Choroidal Hypoplasia, CEA (NHEJ1)

Named for its high prevalence in Collie dogs, Collie Eye Anomaly (CEA) is more correctly termed choroidal hypoplasia. The choroid anchors the retina to the underlying structures and supplies it with oxygen and nourishment. CEA is a developmental disease of the choroid. The gene is NHEJ1 (intron 4). The mode of inheritance is recessive. 

  • Based on Embark-tested Australian Shepherds that have opted into research, here’s a snapshot of the breed today: 91.6% of dogs tested clear, 8.0% tested carrier, heterozygote recessive, and 0.2% tested at-risk for Collie Eye Anomaly, Choroidal Hypoplasia, CEA (NHEJ1).

Citations: Parker et al 2007

Rare genetic health risk factors 95-99% clear rate

These are rare genetic conditions in the Australian Shepherd, based on Embark data, ranked from most to least prevalent in the Australian Shepherd, with 95% to 99% of dogs testing clear. 

Hyperuricosuria and Hyperuricemia or Urolithiasis, HUU (SLC2A9)

This condition causes kidney and bladder stones composed of urate. In most dogs, uric acid is converted to allantoin, an inert substance then excreted in the urine. Dogs with HUU have defects in the pathway that converts uric acid to allantoin. As such, uric acid builds up, crystallizes and forms urate stones in the kidneys and bladder. Uric acid is an intermediate of purine metabolism. While hyperuricemia in other species (including humans) can lead to painful conditions such as gout, dogs do not develop systemic signs of hyperuricemia. The gene is SLC2A9. This mutation was first described in the Dalmatian. This mutation is inherited in an autosomal recessive manner. 

  • Based on Embark-tested Australian Shepherds that have opted into research, here’s a snapshot of the breed today: 95.4% of dogs tested clear; 4.4% tested as carriers, heterozygote recessive, and <0.1% at risk, homozygote recessive for Hyperuricosuria and Hyperuricemia or Urolithiasis, HUU.

Citations: Bannasch et al 2008 , Karmi et al 2010 , Donner et al 2016

Progressive Retinal Atrophy, prcd

PRA-prcd is a retinal disease that causes progressive, non-painful vision loss. The retina contains cells, called photoreceptors, that collect information about light and send signals to the brain. There are two types of photoreceptors: rods, for night vision and movement, and cones, for day vision and color. This type of PRA leads to early loss of rod cells, leading to night blindness before day blindness. The gene is PRCD Exon 1 and the mode of inheritance is recessive. 

  • Based on Embark-tested Australian Shepherds that have opted into research, here’s a snapshot of the breed today: 98.4% of dogs tested clear, and 1.5% tested carriers for Progressive Retinal Atrophy, prcd. 

Citations: Zangerl et al 2006

Canine Multifocal Retinopathy, cmr1 (BEST1 Exon 2)

This is a non-progressive retinal disease that, in rare cases, can lead to vision loss. Dogs with larger lesions can suffer from vision loss. CMR is fairly non-progressive; new lesions typically stop forming when a dog is an adult, and some lesions will even regress with time. The gene is BEST1/VMD2 Exon 2. The mode of inheritance is recessive. 

  • Based on Embark-tested Australian Shepherds that have opted into research, here’s a snapshot of the breed today: 98.7% of dogs tested clear, 1.1% tested carriers, and <0.1% tested at-risk for Canine Multifocal Retinopathy, cmr1 (BEST1 Exon 2).

Citations: Guziewicz et al 2007 Hoffman et al 2012 

 

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Very rare genetic health risk factors >99% clear rate

The following genetic conditions have a greater than 99% clear rate and are considered very rare genetic diseases in the Australian Shepherd. 

Craniomandibular Osteopathy, CMO (SLC37A2)

A noncancerous, proliferative bone disease that commonly affects the lower jaw and tympanic bullae, CMO is best known in the West Highland White Terrier, Scottish Terrier, and Cairn Terrier; though it has been observed sporadically in larger dog breeds. The gene is SLC37A2 (Exon 15). The mode of inheritance is recessive. 

Citations: Hytonen et al 2016

Day Blindness, Cone Degeneration, Achromatopsia (CNGB3 Deletion, Alaskan Malamute Variant)

Day Blindness (also known as Cone Degeneration (cd) or Achromatopsia) is a progressive, non-painful disorder of the retina that affects color vision and light perception. Cone cells not only register color, but also allow the dog to adjust their eyes to bright light. Affected dogs develop day-blindness and photophobia (light sensitivity). Symptoms are present only in bright light; vision in dim light is normal. The gene is CNGB3. The mode of inheritance is recessive. 

Citations: Sidjanin et al 2002 Yeh et al 2013

Junctional Epidermolysis Bullosa (LAMB3 Exon 11, Australian Shepherd Variant)

Junctional Epidermolysis Bullosa (JEB) is a hereditary blistering disease of the skin and mucous membranes, characterized by the spontaneous development of vesicles, erosions, and ulcers upon minimal trauma to the skin. The gene is LAMB3 Exon 11. The mode of inheritance is recessive. 

Citations: Kiener et al 2020 Marin-Garcia and Llobat 2022 Leeb Roosje and Welle 2022

Neuronal Ceroid Lipofuscinosis 6, NCL 6 (CLN6 Exon 7, Australian Shepherd Variant)

A lysosome is a structure within the cell that digests and removes waste. When the lysosome cannot recycle waste properly, the waste accumulates and causes the cell to die. This form of lysosomal storage disease causes juvenile to adult-onset neurologic signs. The gene is CLN6 (Exon 7). The mode of inheritance is recessive. 

Citations: Katz et al 2011

Neuronal Ceroid Lipofuscinosis 8, NCL 8 (CLN8, Australian Shepherd Variant)

A lysosome is a structure within the cell that digests and removes waste. When the lysosome cannot recycle waste properly, the waste accumulates and causes the cell to die. This form of lysosomal storage disease causes juvenile to adult-onset neurologic signs. The gene is CLN8. The mode of inheritance is recessive. 

Citations: Guo et al 2014

With 12 known conditions in the Australian Shepherd, this is evidence that genetic disorders are of concern within the breed, and other conditions are likely to be identified in the future. By DNA testing your Australian Shepherd with Embark, you can help accelerate more novel discoveries to help your breed and all dogs. 

Canine Health and Breed Resources 

United States Australian Shepherd Association 

Orthopedic Foundation for Animals (OFA)

OFA Canine Health Information Center (CHIC)

OFA-CHIC Health Testing Requirements for the Australian Shepherd

Mandatory

Hip Dysplasia 

Elbow Dysplasia

ACVO Eye Exam 

Optional but recommended 

Autoimmune Thyroiditis

Collie Eye Anomaly 

Multiple Drug Sensitivity 

Remember, genetic health testing is not a diagnosis of a disease. Please consult your veterinarian for any health issues with your dog. To start your DNA testing journey, explore Embark for Breeders Dog DNA Tests. 

 

Lisa Peterson Contributor

Award-winning writer, journalist, and podcast host Lisa Peterson is a canine subject matter expert and Content Strategy Lead at Embark Veterinary. She served as the American Kennel Club director of communications and club communications for 10 years before becoming a Westminster Kennel Club public relations consultant from 2016 to 2021. Lisa began owning, breeding, and handling Norwegian Elkhounds more than 35 years ago, and today is an AKC judge and AKC Breeder of Merit.

Read more about Lisa Peterson

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