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Genetic Health Testing for Cavalier King Charles Spaniels

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Cavalier King Charles Spaniel

Embark for Breeders offers five breed-specific genetic health tests for the Cavalier King Charles Spaniel 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 Cavalier King Charles Spaniel 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 are not able to 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 Cavalier King Charles Spaniel. 

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 Cavalier King Charles Spaniel, with less than 95% of dogs testing clear. 

Chondrodystrophy and Intervertebral Disc Disease, CDDY/IVDD, Type I IVDD

Type I Intervertebral Disc Disease (IVDD) is a back or neck issue affecting the discs that act as cushions between vertebrae (the spine bones). With Type I IVDD, affected dogs can have an event where the disc ruptures or herniates towards the spinal cord. This pressure on the spinal cord causes neurologic signs ranging from pain to a wobbly gait to paralysis. Chondrodystrophy (CDDY) refers to the relative proportion between a dog’s legs and body, wherein the legs are shorter and the body longer. 

There are multiple different variants that 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 gene is ​​FGF4, and the mode of inheritance is dominant. 

Many dog breeds, due to human selection for a desired appearance (phenotype), have a high frequency of this variant in the FGF4 retrogene, meaning most or all Frenchies have at least one copy of the variant. Therefore, breeding decisions cannot be made solely based on this breed variant.

  • Based on Embark-tested Cavalier King Charles Spaniels that have opted into research, here’s a snapshot of the breed today: <0.1% of dogs tested clear; 98.8% tested at-risk, homozygote dominant; and 1.1% at risk, heterozygote dominant for Chondrodystrophy and Intervertebral Disc Disease, CDDY/IVDD, Type I IVDD 

Citations: Brown et al 2017 Batcher et al 2019

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 Cavalier King Charles Spaniels that have opted into research, here’s a snapshot of the breed today: 26.8% of dogs tested clear; 47.8% tested carriers; and 24.8% at risk for Degenerative Myelopathy, DM (SOD1A)

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

Episodic Falling Syndrome (BCAN)

This disease causes episodes of spastic muscle contraction in response to stress, excitement, or exercise. EFS is caused by a deficiency of a protein called brevican, which has a role in controlling the speed and rate at which specific neurons in the brain and spinal cord fire. Loss of brevican leads to abnormal bursts of neuronal activity, leading to the downstream effect of spastic muscle contraction. The gene is BCAN (Exons 1-4). The mode of inheritance is recessive. 

  • Based on Embark-tested Cavalier King Charles Spaniels that have opted into research, here’s a snapshot of the breed today: 88% of dogs tested clear; 11.4% tested carriers; and 0.4% at risk for Episodic Falling Syndrome (BCAN)

Citations: Gill et al 2011

Rare genetic health risk factors 95-99% clear rate

This is a rare genetic condition in the Cavalier King Charles Spaniel, with 95% to 99% of dogs testing clear. 

Congenital Keratoconjunctivitis Sicca and Ichthyosiform Dermatosis, Dry Eye Curly Coat Syndrome, CKCSID (FAM83H Exon 5)

A developmental disease of the eyes, skin, hair, and nails, dogs affected with this condition are prone to corneal ulcers, itchy skin, and thick, cracked paw pads. The gene is FAM83H. The mode of inheritance is recessive. 

  • Based on Embark-tested Cavalier King Charles Spaniels that have opted into research, here’s a snapshot of the breed today: 91.7% of dogs tested clear; 7.9% tested as carriers, heterozygote recessive, and 0.2% at risk, homozygote recessive for Congenital Keratoconjunctivitis Sicca and Ichthyosiform Dermatosis, Dry Eye Curly Coat Syndrome, CKCSID (FAM83H Exon 5)

Citations: Forman 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 Cavalier King Charles Spaniel

Muscular Dystrophy (DMD, Cavalier King Charles Spaniel Variant 1)

The DMD gene produces the protein dystrophin. Dogs affected with MD have abnormally low levels of functional dystrophin, leading to muscle fiber damage, progressive muscle wasting, and weakness. The gene is DMD. The mode of inheritance is X-linked recessive. 

Citations: Walmsley et al 2010 Shin et al 2013

With six known conditions in the Cavalier King Charles Spaniel, 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 Cavalier King Charles Spaniels with Embark, you can help accelerate more novel discoveries to help your breed and all dogs. 

Canine Health and Breed Resources 

American Cavalier King Charles Spaniel Club 

Orthopedic Foundation for Animals (OFA)

OFA Canine Health Information Center (CHIC)

OFA-CHIC Health Testing Requirements for the Cavalier King Charles Spaniel 

Mandatory

Hip Dysplasia 

ACVO Eye Exam 

Patellar Luxation 

Cardiac Evaluation

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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