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“Dorothy”
7-L's Golden Girl Dorothy

Cavalier King Charles Spaniel

“Dorothy is full grown at a whopping 10 lbs!”

Instagram tag
@7barl_cavaliers

Place of Birth

Arkansas, USA

Current Location

Hearne, TX, USA

From

Arkansas, USA

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Registration

Continental Kennel Club (CKC): cv-05448278

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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Dorothy 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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Dorothy inherited both copies of the variant we tested

How to interpret this result

Dorothy 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.

Proportionate Dwarfism

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Dorothy inherited one copy of the variant we tested

What does this result mean?

This variant should not impact Dorothy’s health. This variant is inherited in an autosomal recessive manner, meaning that a dog needs two copies of the variant to show signs of this condition. Dorothy is unlikely to develop this condition due to this variant because she only has one copy of the variant.

Impact on Breeding

Your dog carries this variant and will pass it on to ~50% of her 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 Proportionate Dwarfism?

Embark’s data suggests that this variant in the GH1 gene may contribute to a smaller body size. The original publication predicts this is due to a growth hormone (GH) deficiency. However, adult body size is influenced by several different genetic variants. Other changes noted by the publication, including retained baby teeth, persistent puppy-like coats, and low blood sugar have been occasionally reported by owners of dogs with two copies of this variant. These changes may or may not be associated with this variant.

ALT Activity

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Dorothy inherited one copy of the variant we tested

Why is this important to your vet?

Dorothy has one copy of a variant associated with reduced ALT activity as measured on veterinary blood chemistry panels. Please inform your veterinarian that Dorothy has this genotype, as ALT is often used as an indicator of liver health and Dorothy is likely to have a lower than average resting ALT activity. As such, an increase in Dorothy’s 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

Degenerative Myelopathy, DM (SOD1A)

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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Traits

Explore the genetics behind your dog’s appearance and size.

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

Haplogroup

A1b

Haplotype

A303

Map

A1b

7-L's Golden Girl Dorothy’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!

A303

7-L's Golden Girl Dorothy’s Haplotype

Part of the large A1b haplogroup, this uncommon haplotype occurs in dogs with European ancestry.

A1b is the most common haplogroup found in German Shepherds.

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The Paternal Haplotype reveals a dog’s deep ancestral lineage, stretching back thousands of years to the original domestication of dogs.

Are you looking for information on the breeds that Dorothy inherited from her mom and dad? Check out her breed breakdown.

Paternal Haplotype is determined by looking at a dog’s Y-chromosome—but not all dogs have Y-chromosomes!

Why can’t we show Paternal Haplotype results for female dogs?

All dogs have two sex chromosomes. Female dogs have two X-chromosomes (XX) and male dogs have one X-chromosome and one Y-chromosome (XY). When having offspring, female (XX) dogs always pass an X-chromosome to their puppy. Male (XY) dogs can pass either an X or a Y-chromosome—if the puppy receives an X-chromosome from its father then it will be a female (XX) puppy and if it receives a Y-chromosome then it will be a male (XY) puppy. As you can see, Y-chromosomes are passed down from a male dog only to its male offspring.

Since Dorothy is a female (XX) dog, she has no Y-chromosome for us to analyze and determine a paternal haplotype.

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