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Pelsfarge C-lokus Colourpoint (Siam, Mink, Burma)

Coat colour in cats is controlled by a wide range of different genes working together. One of these genes involved is the Tyrosinase (TYR) gene. This gene produces an enzyme that is required for melanin production, which gives skin, hair, and eyes their colour. Mutations in this gene cause various degrees of Type 1 Oculocutaneous Albinism (OCA1), a failure to produce pigment. This can range between the distinctive point colouration of the Burmese and Siamese cat, to complete albinism.

Two known autosomal recessive mutations in TYR have been associated with colourpoints: a pattern of colouration that causes a cat’s body to be pale and their extremities to be dark. It is directly caused by temperature differences in which the darker parts of the cat are colder, while the lighter parts are warmer. The first mutation is designated as “cb” and is responsible for Burmese-type point colouration or Burmese colourpoint. The second mutation is designated as “cs” and is responsible for Siamese-type point colouration or Siamese colourpoint. Cats that carry one “cb” allele and one “cs” allele will display Tonkinese or Mink colourpoints instead, an intermediate color between Siamese and Burmese. The “cb” and “cs” variants are both tested here.

The alleles of the mentioned mutations are equal in dominance. They are recessive to the normal genotype (C) and dominant over the alleles for complete albinism (c and c2).

Coat Colour White Spotting – W15

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 White Spotting 15 (W15), is caused by an incomplete dominant mutation to the gene KIT. It has been observed in the Arabian horse.

Canine Multiple System Degeneration (CMSD) – Kerry Blue Terrier

Canine Multiple System Degeneration (CMSD) is a progressive, heritable neurological disorder. It is caused by a mutation in the Serine Active Site Containing 1 (SERAC1) gene and is inherited in an autosomal recessive manner. The mutation in the SERAC1 gene causes disruption of phospholipid remodeling and cholesterol trafficking, which are essential for healthy mitochondrial function and neuronal survival. This leads to degeneration of specific brain regions, resulting in the progressive movement disorder seen in Kerry Blue Terriers.

HNPK (eksternt laboratorium)

Hereditary Nasal Parakeratosis (HNPK) is a hereditary skin disorder affecting the Labrador Retriever and related breeds. It is caused by a genetic defect that disrupts normal keratinization of the nasal skin, leading to an abnormal accumulation of keratin on the nose. The disorder is caused by a mutation in the SUV39H2 gene and is inherited in an autosomal recessive manner.

Juvenile Dilated Cardiomyopathy (JDCM) – Manchester Terrier

Dilated Cardiomyopathy (DCM) is a heart disorder characterised by enlargement of the heart (especially of the left ventricle), poor myocardial contractility, and congestive heart failure. This variant of the disorder, known as Juvenile Dilated Cardiomyopathy (JDCM), occurs in young dogs of the Manchester Terrier and English Toy Terrier breeds. It is caused by a recessive disorder to the gene ABCC9. The disorder is severe, and can cause sudden death of juvenile affected dogs.

Muskeldystrofi (MD) – Golden Retriever

Muscular Dystrophy (MD) is an X-linked muscular disorder, equivalent to Duchenne Muscular Dystrophy (DMD) in humans. The disorder is severe and ultimately fatal, and causes progressive degradation of the dog’s muscles. It is caused by an X-linked recessive mutation to the DMD gene.

The variant analysed in this test occurs in the Golden Retriever, and is also sometimes known as Golden Retriever Muscular Dystrophy (GRMD).

Coat Colour White Spotting – W10

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 10 (W10), is caused by an incomplete dominant mutation to the gene KIT. It has been observed in the American Quarter Horse.

Coat Colour White Spotting – W19

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 19 (W19), is caused by an incomplete dominant mutation to the gene KIT. It has been observed in the Arabian horse.

Progressiv retinal atrofi (crd4-PRA/cord1)

Progressive Retinal Atrophy (PRA) is a large group of genetic diseases in which the retina gradually degenerates over time, causing a progressive loss of vision. This variant of the disease, known as crd4-PRA, or as cord1, occurs in the Dachshund and the English Springer Spaniel. It is caused by an autosomal recessive mutation to the retinitis pigmentosa GTPase regulator-interacting protein 1 (RPGRIP1) gene.

Progressiv retinal atrofi (rcd3-PRA)

Progressive Retinal Atrophy (PRA) is a large group of genetic diseases in which the retina gradually degenerates over time, causing a progressive loss of vision. This early-onset variant of the disease, known as Rod-Cone Dysplasia 3 (rcd3, or rcd3-PRA), occurs in the Corgi. It is caused by a recessive mutation to the gene PDE6A.

There is also scientific evidence that this mutation can be a factor explaining retinal signs in the Chinese Crested and German Spitz (Pomeranian) breeds.

Globoid Cell Leukodystrophy (GCL, Krabbes disease) – Irish Setter

Globoid Cell Leukodystrophy (GLD) also known as Krabbe’s Disease is a severe neurological disorder in dogs. It is caused by an autosomal recessive mutation in the galactosylceramidase (GALC) gene that leads to a deficiency of the enzyme galactocerebrosidase. This enzyme is active in the lysosomes (part of an animal’s cell) and is crucial for digesting and removing of waste in the cells. Due to the mutation, toxic substances accumulate, causing damage to the nervous system, particularly the brain and spinal cord. The mutation is found in the Irish Setter.
Additionally, a closely related variant has been observed in the Cairn Terrier and West Highland White Terrier.

Coat Colour Mushroom

Mushroom is a distinctive dilute coat colour characterized by a sepia-toned or taupe body, often accompanied by a flaxen mane and tail. The shade can vary widely between individuals and may resemble other dilutions such as cream or silver, though it is genetically unrelated to either.

This unique colouration is caused by an autosomal recessive mutation in the major facilitator superfamily domain containing 12 (MFSD12) gene. The mutation specifically affects red/yellow pigment (phaeomelanin), leading to visible dilution primarily on chestnut-based horses.

The mushroom gene is most commonly found in Shetland Ponies, with lower frequency observed in Miniature Horses.

Hereditary Deafness (EAOD) – Beauceron

Deafness in dogs can have hereditary causes. They can have an early or late onset. One of the known mutations leading to early-onset adult deafness (EAOD) occurs in the cadherin-related 23 (CDH23) gene. This gene encodes a protein involved in the structure and function of hair cells in the inner ear, which are critical for the conversion of sound waves into electrical signals that the brain can process as sound.

When there is an autosomal recessive mutation in the CDH23 gene, it can lead to structural and functional abnormalities in the ear’s hair cells, leading to deafness. This mutation is found in the Beauceron breed.

Mitochondrial Fission Encephalopathy (MFE) – Bullmastiff

Mitochondrial Fission Encephalopathy (MFE) is a congenital brain disorder that causes hydrocephalus, loss of coordination and abnormal behaviour. It is also known as Cerebellar Ataxia, Familial Cerebellar Ataxia, and Progressive Neuronal Abiotrophy (Ataxia).

In the Bullmastiff, a variant of this disorder is caused by a recessive mutation to the gene MFF.

Early Onset Progressive Polyneuropathy (EOPP)

Polyneuropathy is a neurological disorder characterized by damage to the peripheral nerves. The variant of the disease analysed in this test is found in the Greyhound, and is known as Early Onset Progressive Polyneuropathy (EOPP) or
Greyhound Polyneuropathy (GHPN). It is caused by an autosomal recessive mutation to the gene NDRG1. A related variant, Alaskan Malamute Polyneuropathie (AMPN), is also offered as a seperate test.

Muzzle Length (Brachycephaly, BMP3-related) – Dog

Brachycephaly or muzzle length in dogs is amongst others due to a mutation in the bone morphogenetic protein 3 (BMP3) gene. This gene helps form the bones in a dog’s face and skull and having the mutation causes the face to be shorter, which gives dogs of specific breeds their brachycephalic (short, flat-faced) appearance. This can also cause health problems like breathing difficulties in Bulldogs, Pugs, French Bulldogs, Boxers, and other breeds with short faces. The BMP3 mutation is just one of the factors influencing the structure of the face in dogs. Therefore it is marked as a multifactorial trait.

Progressive Retinal Atrophy (GUCY2D-PRA)

Progressive Retinal Atrophy (PRA) is a large group of inherited eye diseases that cause blindness in various breeds of dogs. The blindness is caused by gradually degeneration of cells in the retina over time, causing a progressive loss of vision. This early-onset variant of the disease occurs in the German Spitz. It is caused by a recessive mutation to the guanylate cyclase 2D (GUCY2D gene), which is expressed in the retinal cells.

Oculoskeletal Dysplasia 2 (OSD2) / Retinal Dysplasia (RD) – Samoyed

Oculoskeletal Dysplasia 2 (OSD2) is a genetic disorder characterized by dwarfism and retinal dysplasia (RD), potentially leading to joint deformities and vision loss. It is caused by a recessive mutation in the collagen, type IX, alpha 2 (COL9A2) gene and has been identified specifically in Samoyed dogs. COL9A2 plays an essential role in healthy cartilage and eye development. Therefore, a mutation in this gene can lead to skeletal and ocular abnormalities.

Familial Thyroid Follicular Cell Carcinoma I & II

Thyroid carcinomas (TCs) are the most common type of endocrine tumours. They can originate from growth of follicular cells of the thyroid gland, which lead to familial or spontaneous thyroid follicular cell carcinomas (FCCs). The carcinomas don’t cause any signs or symptoms early in the disease. As thyroid cancer grows, it may cause swelling in the neck, voice changes and difficulties swallowing. The diagnosis is often before 10 years of age, implying an early onset of disease. FCCs occur in German longhaired pointers and are caused by autosomal recessive inherited gene mutations in the TPO gene. There are two mutations known on chromosome 17, that cause different carcinoma’s: Thyroid follicular cell carcinoma I (C>T) and Thyroid follicular cell carcinoma II (G>A).

Clinical signs include the presence of cervical mass, intermittent cough. In case of a hormone producing mass, alopecia, polyuria, polydipsia and lethargy can be seen.

Delayed Postoperative Hemorrhage (DEPOH, SERPINF2-related)

Delayed Postoperative Hamorrhage (DEPOH) is an inherited bleeding disorder primarily observed in Greyhounds and Scottish Deerhounds. It is associated with a mutation in the Serpin Family F Member 2 (SERPINF2) gene, which affects the function of alpha-2 antiplasmin, a key inhibitor of blood clot breakdown. As a result, affected dogs initially form normal blood clots after surgery or trauma, but these clots are broken down prematurely, leading to delayed bleeding. The condition is inherited in an autosomal dominant manner with incomplete penetrance. Dogs carrying one copy of the variant have a moderately increased risk of developing clinical signs, while dogs with two copies have a higher risk.

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