Lexicon
Deafness in dominant blue-eyed (DBE) cats
Due to genetic causes, cats with dominant blue eyes, also known as “DBE”, often suffer from deafness. A newly developed mutation test can detect whether animals with DBE also inherit the predisposition for deafness.
DBE is caused by various mutations in the PAX3 gene, depending on the cat's breeding line. What they all have in common is a malfunction that leads to a lack of melanocytes in the eyes and skin.
DNA test DBE-RE: Shop
Degenerative Myelopathy (DM dog)
In degenerative myelopathy (DM), the long spinal cord nerves slowly degenerate. As a result, symptoms develop such as reduced perception of stimuli, weakness of movement, loss of fine motor skills and finally complete paralysis of the hind and forehand.
Some time ago, a risk factor for the development of DM was discovered, a mutation in the superoxide dismutase 1 gene (SOD1 gene). SOD is an important free radical inhibitor in cells and prevents free radicals from causing significant damage to the genetic material and cell integrity. If this fails due to the mutation, the cells are increasingly damaged.
The disease occurs in many breeds, large dogs are particularly affected. The inheritance is autosomal recessive.
Dermoid Sinus
Dermoid sinuses are malformations of the skin as a result of a genetic defect. In the area of the dorsal line, a tube-like invagination of the skin develops which varies individually in depth and opening and, in extreme cases, extends from the surface to the spine.
Dominant Black (Coat colour K-Locus Dog)
The base colour of the dog is determined by the interaction of the the K locus (BlacK), A locus (Agouti) and the E locus (Extension). The alleles of these loci determine if and where the pigment eumelanin (black colour) and the pigment phaeomelanin (red colour) can be produced and how these two are distributed over the body.
The K locus has different alleles which determine if and where the pigment phaeomelanin can be produced in addition to eumelanin.
The KB allele is inherited dominantly and codes for a black coat colour, pheomelanin (red/light colour) cannot be produced additionally. The dog has a black coat colour over the whole body (Dominant Black).
Genetic Test: available in Shop
Dun (Dilution factor Horse)
Dun is a dilution of the base colour in combination with primitive markings (stripes on legs and one along the back). Dun is the original coat colour of all horses ("wild type"). Depending on the base colour of the horse, different colourings occur: Red Dun (chestnut), Yellow Dun (bay), Blue Dun (black).
Over time, two mutations have emerged that produce a different phenotype. The nd1 mutation allows a partial function of the gene, the horse then has a non-diluted coat colour (vibrant) with primitive markings ("pseudo dun"). The nd2 mutation switches off the gene function completely, so that the horse has a non-diluted coat colour without primitive markings. This is the most common phenotype in most horse breeds today.
Genetic Test: available in Shop
Ectodermal Dysplasia (ED Dog)
Ectodermal dysplasia (ED) is a skin disease in which affected puppies have extremely thin and fragile skin that peels off even when touched lightly. Puppies with this condition are usually euthanised immediately after birth.
The disease occurs in Chesapeake Bay Retrievers. It is inherited in an autosomal recessive manner.
Synonym: Skin fragility syndrome
Equine Turner Syndrome
Equine Turner syndrome is a developmental disorder in mares. It is caused by the complete or partial loss of an X chromosome (karyotype 63,XO).
Affected animals usually show normal-appearing external sexual characteristics, but exhibit abnormal development of the ovaries and the female reproductive tract. A smaller stature is also often observed. The most significant consequence is infertility. Equine Turner syndrome is the most common chromosomal aberration in mares. The name is derived from “Turner syndrome” in humans.
Exercise Induced Collapse (EIC Dog)
Exercise-induced collapse (EIC) is a neuromuscular disorder characterised by exercise intolerance in otherwise healthy dogs. The first signs begin within 2 minutes of strenuous exercise. Affected dogs then show a wobbly gait with weakness of the hind legs, coordination difficulties and general weakness. The cause is the malformation of dynamin 1 (DNM1), a neurotransmitter.
The hereditary disease occurs in the Labrador Retriever and other Retriever breeds. The inheritance is autosomal recessive.
Genetic Test: available in Shop
Also in the Labrador Retriever A package (DRC P1)
Extension | Chestnut (Base colour E-Locus Horse)
Three base colours occur in the horse: Chestnut (reddish), Black and Bay (Brown).The base colour is determined by the combination of the Extension locus (E) and Agouti locus (A).
The Extension locus (E) controls the production of the black pigment 'eumelanin' in the melanocytes.
If the gene is altered and non-functional (ee), the black pigment cannot be produced and the horse has a chestnut coat colour. Horses with one or two intact copies of the extension gene (EE, Ee) are either bay or black (depending on the Agouti gene).
Genetic Test: available in Shop
Also in the Base Colour package
Extension (Coat colour E-Locus Dog)
The base colour of the dog is determined by the interaction of the the E locus (Extension), A locus (Agouti) and the K locus (BlacK). The alleles of these loci determine if and where the pigment eumelanin (black colour) and the pigment phaeomelanin (red colour) can be produced and how these two are distributed over the body.
The E locus has different alleles which determine whether and where the dark pigment eumelanin can be produced. If eumelanin cannot be produced, the dogs show a light sometimes reddish colouring, because only the red/light pigment phaeomelanin is produced.
Genetic Test: available in Shop