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Genetic Health Testing for Beagles

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Beagle standing in profile

Embark for Breeders Dog DNA test offers 12 breed-specific genetic health tests for the Beagle 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, it is important for breeders to educate themselves about concepts such as modes of inheritance, penetrance, prevalence, and phenotype for a specific variant (mutation) in your 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 Beagle 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 Beagles. 

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 Beagle, with less than 95% of dogs testing clear. 

Chondrodystrophy and Intervertebral Disc Disease, CDDY/IVDD, Type I IVDD (FGF4 retrogene – CFA12)

Type I Intervertebral Disc Disease (IVDD) is a back/spine issue that is a health condition affecting the discs that act as cushions between vertebrae. With Type I IVDD, affected dogs can have a disc event that ruptures or herniates towards the spinal cord. This pressure on the spinal cord causes neurologic signs ranging from a wobbly gait to impairment of movement. 

Chondrodystrophy (CDDY) refers to the relative proportion between a dog’s legs and body, wherein the legs are shorter and the body longer. Multiple variants can cause a markedly chondrodystrophic appearance, as observed in Dachshunds and Corgis. However, this particular variant is the only one known also to increase the risk for IVDD. The mode of inheritance is dominant. This is a linkage test.*

* WHAT IS A LINKAGE TEST?

DNA sequences that are close together on a chromosome tend to be inherited together. Because of this, we can use genetic variation surrounding a specific variant (i.e. “linked” to it) to infer the presence or absence of a variant linked to a health condition or trait. Linkage tests are not as predictive of your dog’s true genotype as direct assays, which we use on most other genetic conditions we test for.

Research indicates that dogs with one or two copies of this variant have a similar risk of developing IVDD. However, there are some breeds (e.g. Beagles and Cocker Spaniels, among others) where this variant has been passed down to nearly all dogs of the breed, and most do not show overt clinical signs of the disorder. 

Citations: Brown et al 2017, Batcher et al 2019

Factor VII Deficiency (F7 Exon 5)

Factor VII deficiency is a type of coagulopathy, a disorder of blood clotting. It is characterized by mild to moderate abnormal bleeding (generally less severe than that caused by deficiencies in other clotting factors such as Factors VIII or IX). Some dogs with this condition will show no clinical signs.

  • Based on Embark-tested Beagles that have opted into research, here’s a snapshot of the breed today: 68.8% of dogs tested clear, 26.8% tested carriers, and 4.3% tested at-risk for Factor VII Deficiency (F7 Exon 5) 

Citations: Callan et al 2006, Donner et al 2016

Progressive Retinal Atrophy, crd4/cord1 (RPGRIP1)

PRA-CRD4/cord1 is a retinal disease that causes progressive, non-painful vision loss over a 1-2 year period. 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 cone cells, causing day blindness before night blindness. The mode of inheritance is recessive. 

  • Based on Embark-tested Beagles that have opted into research, here’s a snapshot of the breed today: 76.2% of dogs tested clear, 21.5% tested carriers, and 2.1% tested at-risk for Progressive Retinal Atrophy, crd4/cord1 (RPGRIP1)

Citations: Mellersh et al 2006

Hypocatalasia, Acatalasemia (CAT)

Catalase is important in fighting reactive oxygen species, which can cause cellular damage. Fortunately, many enzymes can break down reactive oxygen species; as such acatalasemia is usually a benign disease: however, some acatalasemic dogs suffer from what is known as Takahara’s disease, where patients have progressive mouth ulcers. The mode of inheritance is recessive. 

  • Based on Embark-tested Beagles that have opted into research, here’s a snapshot of the breed today: 89.4% of dogs tested clear, 10.1% tested carriers, and 0.4% tested at-risk for Hypocatalasia, Acatalasemia (CAT)

Citations: Nakamura et al 2000, Goth et al 2012, Donner et al 2016

 

Rare genetic health risk factors 95-99% clear rate

These are the rare genetic conditions in the Beagle, from most to least prevalent, with 95% to 99% of dogs testing clear. 

Primary Open Angle Glaucoma (ADAMTS10 Exon 17, Beagle Variant)

Glaucoma is the result of high intraocular pressure, and if left untreated, can lead to pain and vision loss. The “angle” of primary open glaucoma (POAG) refers to the intersection of the cornea and the iris: this is where aqueous humor (clear fluid filling the eye) must flow to exit the eye. In open angle glaucoma, the iridocorneal angle remains unchanged, and other factors contribute to increased resistance to outflow. The mode of inheritance is recessive. 

  • Based on Embark-tested Beagles that have opted into research, here’s a snapshot of the breed today: 95.6% of dogs tested clear, 4.1% tested carrier, and <0.1% tested at risk for Primary Open Angle Glaucoma (ADAMTS10 Exon 17, Beagle Variant)

Citation: Kuchtey et al 2011

Musladin-Lueke Syndrome, MLS (ADAMTSL2)

This condition causes abnormally strong connections between the structural proteins that provide strength and integrity to tissues like the skin and skeletal muscle, as well as the protective tissue sheaths of the bones and central nervous system.

  • Based on Embark-tested Beagles that have opted into research, here’s a snapshot of the breed today: 95.6% of dogs tested clear, 4.1% tested carrier, and <0.1% tested at risk for Musladin-Lueke Syndrome, MLS (ADAMTSL2)

Citation: Bader et al 2010

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 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 Beagles that have opted into research, here’s a snapshot of the breed today: 97.5% of dogs tested clear, 2.2% tested carrier, and 0.1% at risk, for Degenerative Myelopathy, DM (SOD1A)

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

Imerslund-Grasbeck Syndrome, Selective Cobalamin Malabsorption (CUBN Exon 8, Beagle Variant)

This is a gastrointestinal disease where dogs cannot absorb cobalamin, often causing them to be small with poor energy levels. Cobalamin is required for synthesis of certain amino acids and is an important factor for a number of other metabolic processes. Dogs cannot generate their own cobalamin but must consume it in their diet. However, dogs with IGS cannot absorb cobalamin from their meals. The mode of inheritance is recessive. 

  • Based on Embark-tested Beagles that have opted into research, here’s a snapshot of the breed today: 98.3% of dogs tested clear, 1.6% tested carrier for Imerslund-Grasbeck Syndrome, Selective Cobalamin Malabsorption (CUBN Exon 8, Beagle Variant)

Citations: Drogemuller et al 2014

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 Beagle. 

Cerebellar Abiotrophy, Neonatal Cerebellar Cortical Degeneration, NCCD (SPTBN2, Beagle Variant)

Known as the “oldest” (even reptiles and more ancient species have them!) part of the brain, the cerebellum fine-tunes motor signals from the brain to the muscles, allowing for balance and coordination. When the cerebellum does not function properly, dogs become uncoordinated and do not have the ability to perform fine motor skills.The mode of inheritance is recessive. 

Citations: Forman et al 2012, Gao et al 2011

Congenital Stationary Night Blindness (LRIT3, Beagle Variant)

CSNB causes blindness at night, but normal vision during the day. This is a non-progressive disease, meaning that vision will not worsen over time. The mode of inheritance is recessive. 

Citations: Das et al 2019

Osteogenesis Imperfecta, Brittle Bone Disease (COL1A2, Beagle Variant)

Our bones are equal parts rigid and flexible, making them capable of withstanding high impact as well as constant tension from attached muscle tendons and ligaments. Dogs affected with OI have lost the flexible part of the bone, which is primarily made of Type I collagen. This leads to extremely brittle bones and teeth. Type I collagen is also important in joints; as such, affected dogs can also present with hyperflexible joints and joint pain. The mode of inheritance is dominant. 

Citations: Campbell et al 2001

Pyruvate Kinase Deficiency (PKLR Exon 7, Beagle Variant)

This is a disease of red blood cells characterized by low energy level, jaundiced skin, and pale and cool extremities. Dogs affected with PKD have red blood cells that have impaired ability to produce energy, leading to breakdown of important cell processes that contribute to form and function. The mode of inheritance is recessive. 

Citations:Gultekin et al 2012b

Remember, with twelve known conditions in the Beagle, 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 Beagle with Embark you can help accelerate more novel discoveries to help your breed and all dogs. 

Canine Health and Breed Resources 

The National Beagle Club of America

Orthopedic Foundation for Animals (OFA)

OFA Canine Health Information Center (CHIC)

OFA-CHIC Health Testing Requirements for the Beagle 

Mandatory

Hip Dysplasia 

Eye Examination

MLS

Cardiac Evaluation

Autoimmune Thyroiditis

Optional but recommended 

Advanced Cardiac Evaluation

Patellar Luxation

Lafora Epilepsy

FACTOR VII Deficiency

Neonatal Cerebellar Cortical Degeneration

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 Kits. 

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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