cavalier/info-lgs@agrotis.it - Page 5 of 5

Obesity (DENND1B-related)

Obesity is a common health concern in dogs. While factors like diet, exercise, and lifestyle all play important roles in a dog’s weight, genetics also have a significant influence.
A mutation in a gene called DENN Domain Containing 1B (DENND1B) seems to play a role as risk factor. This gene plays an important role in a brain signaling system that helps regulate appetite and energy balance (known as MC4R). When this system is disrupted, it can lead to increased hunger and reduced energy use, both of which promote weight gain.

Coat Colour White Spotting – W4

The Dominant White coat colour pattern in horses can be caused by any in a wide array of related mutations. The resulting pattern can vary anywhere between white markings on the face and legs, up to a completely white coat. Depending on both breed and pattern, variants of the Dominant White phenotype may be referred to as Splashed White, White Spotting, Tobiano or Sabino, among others.

The specific variant analysed in this test, known as Dominant White 4 (W4), is caused by an incomplete dominant mutation to the gene KIT. It has been observed in the Camarillo White Horse.

Vitamin D-Resistant Rickets (VDR) – Pug

Vitamin D Resistant Rickets (VDR or VDR1A), Type IA, is a hereditary disorder found in Pugs. It is primarily caused by an autosomal recessive mutation in the CYP27B1 gene. This gene encodes the enzyme responsible for converting vitamin D into its active form, making the gene essential for regulating calcium and phosphorus metabolism. In VDR1A, the mutation can make the enzyme inactive or less effective, which reduces or blocks the activation of vitamin D. As a result, young dogs may develop serious bone and teeth deformities, along with growth problems.

Pug Dog Encephalitis (PDE) / Necrotizing Meningoencephalitis (NME) Risk Factor

Pug Dog Encephalitis (PDE), also known as Necrotizing Meningoencephalitis (NME), is a severe neurological condition primarily affecting Pugs, though it has also been reported in other small breeds, such as the Maltese, Chihuahua, and Yorkshire Terrier. PDE is an autoimmune disease characterized by inflammation in the brain, leading to neurological symptoms. The condition is usually progressive and fatal. While the exact genetic cause is not fully understood, this test analyses a specific mutation in the Dog Leukocyte Antigen (DLA) gene associated with increased risk. This test is not a diagnostic tool but serves as risk factor.

Progressive Retinal Atrophy (crd4-PRA/cord1 and MAP9) – 2 variants

Progressive Retinal Atrophy (PRA) encompasses a group of hereditary retinal diseases that cause gradual vision loss due to degeneration of photoreceptor cells. The crd4-PRA variant, also known as cord1, is primarily found in Dachshunds (especially Miniature Longhaired) and English Springer Spaniels. It is caused by an autosomal recessive mutation in the retinitis pigmentosa GTPase regulator-interacting protein 1 (RPGRIP1) gene.
Recent research has shown that RPGRIP1 alone may not be sufficient to cause disease. A second mutation in the MAP9 gene (microtubule-associated protein 9) acts as a modifier, accelerating disease onset when present alongside RPGRIP1.

Dogs affected by crd4-PRA (cone-rod dystrophy type 4) display a progressive degeneration of both cone and rod photoreceptor cells in the retina, leading to gradual vision loss. Early signs of visual impairment can appear as young as 10 to 12 weeks of age, especially in individuals carrying mutations in both RPGRIP1 and MAP9. Common symptoms include difficulty tracking moving objects, clumsiness, and night blindness. However, the age of onset and severity vary widely: some dogs may be blind by six months, while others retain functional vision well into their senior years. On average, signs of sight loss begin around five years of age. This variability is influenced by genetic modifiers such as MAP9, which can accelerate disease progression when present alongside RPGRIP1 mutations.

Pelsfarge Splashed White 2

The White Spotting coat colour pattern in horses can be caused by any in a wide array of related mutations. The resulting pattern can vary anywhere between white markings on the face and legs, up to a completely white coat. Depending on both breed and pattern, variants of the White Spotting phenotype may be referred to as Splashed White, Dominant White, Tobiano or Sabino, among others.

The specific variant analysed in this test, known as Splashed White 2 (SW2), is caused by an incomplete dominant mutation to the paired box 3 (PAX3) gene. It is found in the Lipizzaner horse, Noriker and Quarter Horse breeds and is recently renamed into Auditory-pigmentary syndrome.

Haemophilia A (HEMA-2) – German Shepherd

Haemophilia A, also known as Factor VIII Deficiency, is the most prevalent bleeding disorder in dogs. This X-linked recessive condition is triggered by a mutation in the gene F8, which severely compromises the blood’s clotting ability. Dogs affected by Haemophilia A may exhibit symptoms like spontaneous internal bleeding or uncontrolled bleeding following injuries or surgical procedures. These manifestations are a result of the impaired clotting mechanism in the bloodstream. As an X-linked recessive disorder, it predominantly affects male dogs, while female dogs usually act as carriers.
This specific variant of the disease (HEMA-2)occurs in the German Shepherd. Different variants of the mutation are found in other breeds including the Irish Setter, Miniature Schnauzer, Boxer, Old English Sheepdog and the Rhodesian Ridgeback.

Coat Colour White Spotting – W18

The Dominant White coat colour pattern in horses can be caused by any in a wide array of related mutations. The resulting pattern can vary anywhere between white markings on the face and legs, up to a completely white coat. Depending on both breed and pattern, variants of the Dominant White phenotype may be referred to as Splashed White, White Spotting, Tobiano or Sabino, among others.

The specific variatn analysed in this test, known as Dominant White 18 (W18), is caused by an incomplete dominant mutation to the gene KIT. It has been observed in the Swiss Warmblood.

Coat Colour White Spotting – W20

The Dominant White coat colour pattern in horses can be caused by any in a wide array of related mutations. The resulting pattern can vary anywhere between white markings on the face and legs, up to a completely white coat. Depending on both breed and pattern, variants of the Dominant White phenotype may be referred to as Splashed White, White Spotting, Tobiano or Sabino, among others.

The specific variant analysed in this test, known as Dominant White 20 (W20), is caused by an incomplete dominant mutation to the gene KIT. It has been observed in a wide variety of horse breeds.

Sabino 1 pelsfarge

The Dominant White coat colour pattern in horses can be caused by any in a wide array of related mutations. The resulting pattern can vary anywhere between white markings on the face and legs, up to a completely white coat. Depending on both breed and pattern, variants of the Dominant White phenotype may be referred to as Splashed White, White Spotting, Tobiano or Sabino, among others.

The specific variant analysed in this test, known as Sabino 1 (SB1), is caused by an incomplete dominant mutation to the gene KIT. It has been observed in the American Quarter Horse, Appaloosa, Haflinger, Lipizzaner and Noriker.

Hereditary Nasal Parakeratosis (HNPK) – Greyhound

Hereditary Nasal Parakeratosis (HNPK) is a skin disorder that causes the formation of crusts and fissures on the nose of affected dogs. It is caused by a recessive mutation to the gene SUV39H2. The variant analysed in this test occurs in the Greyhound. A closely related variant has also been observed in the Labrador Retriever.

Search: cavalier/info-lgs@agrotis.it – Page 5

Need a new search?