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Clarence

Cavalier King Charles Spaniel

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Genetic Breed Result

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Cavalier King Charles Spaniel

The Cavalier King Charles Spaniel is an indoor companion that loves people and should not be left alone for long. They're loved for their sweet temperaments, and make wonderful dogs for families with children or anyone looking for a dog who will stick to them like Velcro.

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Health Summary

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Clarence is at increased risk for one genetic health condition.

And inherited two variants that you should learn more about.

Intervertebral Disc Disease (Type I)

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Clarence inherited both copies of the variant we tested

How to interpret this result

Clarence has two copies of an FGF4 retrogene on chromosome 12. In some breeds such as Beagles, Cocker Spaniels, and Dachshunds (among others) this variant is found in nearly all dogs. While those breeds are known to have an elevated risk of IVDD, many dogs in those breeds never develop IVDD. For mixed breed dogs and purebreds of other breeds where this variant is not as common, risk for Type I IVDD is greater for individuals with this variant than for similar dogs.

What is Intervertebral Disc Disease (Type I)?

Type I Intervertebral Disc Disease (IVDD) is a back/spine issue that refers to a health condition affecting the discs that act as cushions between vertebrae. With Type I IVDD, affected dogs can have a disc event where it ruptures or herniates towards the spinal cord. This pressure on the spinal cord causes neurologic signs which can range 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. 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 to also increase the risk for IVDD.

Golden Retriever Progressive Retinal Atrophy 1, GR-PRA1

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Clarence inherited one copy of the variant we tested

What does this result mean?

Because this variant is inherited in an autosomal recessive manner (meaning dogs need two copies of the variant to develop the disease), Clarence is unlikely to develop this condition due to the variant.

Impact on Breeding

Your dog carries this variant and will pass it on to ~50% of his offspring. You can email breeders@embarkvet.com to discuss with a genetic counselor how the genotype results should be applied to a breeding program.

What is Golden Retriever Progressive Retinal Atrophy 1, GR-PRA1?

Golden Retriever PRA 1 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.

ALT Activity

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Clarence inherited both copies of the variant we tested

Why is this important to your vet?

Clarence has two copies of a variant in the GPT gene and is likely to have a lower than average baseline ALT activity. ALT is a commonly used measure of liver health on routine veterinary blood chemistry panels. As such, your veterinarian may want to watch for changes in Clarence's ALT activity above their current, healthy, ALT activity. As an increase above Clarence’s baseline ALT activity could be evidence of liver damage, even if it is within normal limits by standard ALT reference ranges.

What is ALT Activity?

Alanine aminotransferase (ALT) is a clinical tool that can be used by veterinarians to better monitor liver health. This result is not associated with liver disease. ALT is one of several values veterinarians measure on routine blood work to evaluate the liver. It is a naturally occurring enzyme located in liver cells that helps break down protein. When the liver is damaged or inflamed, ALT is released into the bloodstream.

Breed-Relevant Genetic Conditions

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Dry Eye Curly Coat Syndrome (FAM83H Exon 5)

Identified in Cavalier King Charles Spaniels

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

Identified in Cavalier King Charles Spaniels

Episodic Falling Syndrome (BCAN)

Identified in Cavalier King Charles Spaniels

Additional Genetic Conditions

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Coat Color

Coat Color

Other Coat Traits

Other Coat Traits

Other Body Features

Other Body Features

Body Size

Body Size

Performance

Performance

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Through Clarence’s mitochondrial DNA we can trace his mother’s ancestry back to where dogs and people first became friends. This map helps you visualize the routes that his ancestors took to your home. Their story is described below the map.

Haplogroup

A1b

Haplotype

A413

Map

A1b

Clarence’s Haplogroup

This female lineage was very likely one of the original lineages in the wolves that were first domesticated into dogs in Central Asia about 15,000 years ago. Since then, the lineage has been very successful and travelled the globe! Dogs from this group are found in ancient Bronze Age fossils in the Middle East and southern Europe. By the end of the Bronze Age, it became exceedingly common in Europe. These dogs later became many of the dogs that started some of today's most popular breeds, like German Shepherds, Pugs, Whippets, English Sheepdogs and Miniature Schnauzers. During the period of European colonization, the lineage became even more widespread as European dogs followed their owners to far-flung places like South America and Oceania. It's now found in many popular breeds as well as village dogs across the world!

A413

Clarence’s Haplotype

Part of the A1b haplogroup, the A413 haplotype occurs most commonly in Cavalier King Charles Spaniels. It's a rare find!

Some other Embark dogs with this haplotype:

A1b is the most common haplogroup found in German Shepherds.

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Through Clarence’s Y-chromosome we can trace his father’s ancestry back to where dogs and people first became friends. This map helps you visualize the routes that his ancestors took to your home. Their story is described below the map.

Haplogroup

A2b

Haplotype

H3

Map

A2b

Clarence’s Haplogroup

A2b appears to have split a few times in succession, which means that some of the Central Asian male ancestors of this lineage went their separate ways before their respective Y chromosomes made their rounds. There is not much diversity in this lineage, meaning that it has only begun to take off recently. Two iconic breeds, the Dachshund and Bloodhound, represent this lineage well. Over half of Rottweilers are A2b, as are the majority of Labrador Retrievers and Cavalier King Charles Spaniels. While A2a is restricted mostly to East Asia, this paternal line is also found among European breeds.

H3

Clarence’s Haplotype

Part of the A2b haplogroup, this haplotype occurs most commonly in Cavalier King Charles Spaniels, Brittanys, Soft Coated Wheaten Terriers, and village dogs in Lebanon.

Some other Embark dogs with this haplotype:

A2b is found in the Daschund breed.

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