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“Thomas”
Safari's Thomas Edison

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Health Summary

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Thomas is at increased risk for one genetic health condition.

And inherited one variant that you should learn more about.

Intervertebral Disc Disease (Type I)

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Thomas inherited both copies of the variant we tested

How to interpret this result

Thomas 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.

Ichthyosis, ICH1

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Thomas inherited one copy of the variant we tested

What does this result mean?

This variant should not impact Thomas’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. Thomas is unlikely to develop this condition due to this variant because he only has one copy of 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 Ichthyosis, ICH1?

This skin disorder gets its name from the thick, darkly pigmented scales of skin ("ichthys" is Greek for "fish") that affected dogs display over most areas of the body, not including the head or extremities.

Breed-Relevant Genetic Conditions

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Von Willebrand Disease Type I, Type I vWD (VWF)

Identified in Small Poodles

Progressive Retinal Atrophy, prcd (PRCD Exon 1)

Identified in Golden Retrievers and Small Poodles

Golden Retriever Progressive Retinal Atrophy 1, GR-PRA1 (SLC4A3)

Identified in Golden Retrievers

Golden Retriever Progressive Retinal Atrophy 2, GR-PRA2 (TTC8)

Identified in Golden Retrievers

Dry Eye Curly Coat Syndrome (FAM83H Exon 5)

Identified in Cavalier King Charles Spaniels

Neuronal Ceroid Lipofuscinosis 5, NCL 5 (CLN5 Exon 4 Deletion, Golden Retriever Variant)

Identified in Golden Retrievers

GM2 Gangliosidosis (HEXB, Poodle Variant)

Identified in Small Poodles

Degenerative Myelopathy, DM (SOD1A)

Identified in Golden Retrievers

Neonatal Encephalopathy with Seizures, NEWS (ATF2)

Identified in Small Poodles

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

Identified in Cavalier King Charles Spaniels

Muscular Dystrophy (DMD, Golden Retriever Variant)

Identified in Golden Retrievers

Episodic Falling Syndrome (BCAN)

Identified in Cavalier King Charles Spaniels

Dystrophic Epidermolysis Bullosa (COL7A1, Golden Retriever Variant)

Identified in Golden Retrievers

Osteogenesis Imperfecta (COL1A1, Golden Retriever Variant)

Identified in Golden Retrievers

Osteochondrodysplasia (SLC13A1, Poodle Variant)

Identified in Small Poodles

Additional Genetic Conditions

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