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Sapphire

Cocker Spaniel

“Sapphire is my new puppy, A gorgeous smart princess, about 18 lbs at 7 months - very sturdy and a quick learn. Adores humans”

Place of Birth

San Jose, California, USA

Current Location

Santa Monica, California, USA

From

San Jose, California, USA

This dog has been viewed and been given 29 wags

Registration

American Kennel Club (AKC): SS01779503

Genetic Breed Result

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Cocker Spaniel

Cocker Spaniels are handsome and intelligent hunting dogs that are also well-suited to life as a loving family pet.

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Here’s what Sapphire’s family tree may have looked like.
While there may be other possible configurations of her family’s relationships, this is the most likely family tree to explain Sapphire’s breed mix.
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Health Summary

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Sapphire 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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Sapphire inherited both copies of the variant we tested

How to interpret this result

Sapphire 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.

Exercise-Induced Collapse, EIC

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Sapphire inherited one copy of the variant we tested

What does this result mean?

This variant should not impact Sapphire’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. Sapphire is unlikely to develop this condition due to this variant because she only has one copy of the variant.

What is Exercise-Induced Collapse, EIC?

EIC has been linked to a mutation in the DNM1 gene, which codes for the protein dynamin. In the neuron, dynamin trucks neurotransmitter-filled vesicles from the cell body, where they are generated, to the dendrites. It is hypothesized in dogs affected with EIC, the mutation in DNM1 disrupts efficient neurotransmitter release, leading to a cessation in signalling and EIC.

ALT Activity

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Sapphire inherited both copies of the variant we tested

Why is this important to your vet?

Sapphire 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 Sapphire's ALT activity above their current, healthy, ALT activity. As an increase above Sapphire’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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Progressive Retinal Atrophy, prcd

Identified in Cocker Spaniels

Familial Nephropathy

Identified in Cocker Spaniels

Glycogen storage disease Type VII, Phosphofructokinase Deficiency, PFK Deficiency

Identified in Cocker Spaniels

Acral Mutilation Syndrome

Identified in Cocker Spaniels

Additional Genetic Conditions

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Traits

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

Base Coat Color

Base Coat Color

Coat Color Modifiers

Coat Color Modifiers

Other Coat Traits

Other Coat Traits

Other Body Features

Other Body Features

Body Size

Body Size

Performance

Performance

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Through Sapphire’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

B1

Haplotype

B43

Map

B1

Sapphire’s Haplogroup

B1 is the second most common maternal lineage in breeds of European or American origin. It is the female line of the majority of Golden Retrievers, Basset Hounds, and Shih Tzus, and about half of Beagles, Pekingese and Toy Poodles. This lineage is also somewhat common among village dogs that carry distinct ancestry from these breeds. We know this is a result of B1 dogs being common amongst the European dogs that their conquering owners brought around the world, because nowhere on earth is it a very common lineage in village dogs. It even enables us to trace the path of (human) colonization: Because most Bichons are B1 and Bichons are popular in Spanish culture, B1 is now fairly common among village dogs in Latin America.

B43

Sapphire’s Haplotype

Part of the large B1 haplogroup, we have spotted this haplotype in Havanese, Cocker Spaniels, and village dogs in Mexico.

The B1 haplogroup can be found in village dogs like the Peruvian Village Dog, pictured above.

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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 Sapphire inherited from her mom and dad? Check out her breed breakdown and family tree.

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

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