Lexicon

In the Blue/Silver colour, the dog's coat, but also the skin, have a dark to light grey colour. Depending on the base colour, certain dilution effects of the colour occur.

The recessive d-allele on the D-locus (dilution) causes the optical dilution of the base colour. Here, a mutation-related loss of the MLPH gene leads to disturbances in the pigmentation of skin and hair.

However, the dilution mutation can also lead to severe health problems such as Colour Dilution Alopecia (CDA - dilution colour-related hair loss).

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The dark pigment eumelanin is lightened to brown. The dog has a chocolate or liver brown coat colour. The skin also becomes lighter, recognisable on the nose and muzzle. Three recessive mutations (b-c, b-d, b-s) in the TYPR1 gene (B locus) lead to the lightening of eumelanin.

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A dwarfism with short legs is the typical characteristic of many dog breeds. The cause of their short-leggedness is attributed to FGF4 retrogenes on chromosome 18 (FGF4-L1) and chromosome 12 (FGF4-L2). In breeds with particularly short legs (Dachshund, Basset Hound, Corgi, Skye Terrier), both retrogenes are present, while others have only one of the two FGF4 retrogenes. In these short-legged breeds, the FGF4 traits are largely fixed.
Clinically, FGF4-L2 leads to chondrodystrophy (CDDY). Along with the shortening of the limbs, it also involves early degeneration of the intervertebral discs. In certain breeds, the presence of FGF4-L2 is considered a predisposition for the development of IVDD type 1 (IVDD = Intervertebral Disc Disease, "herniated disc"), and the DNA test can be used to determine if an FGF4-L2 trait is present.
Please also note the explanation regarding the applicability of the test in Dachshunds.

DNA-Test for CDDY - IVDD-Type 1 Risk:  Shop

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Test bundle CDDY & CDPA:  Shop

The test examines whether the mutation leading to the Griscelli type 1 analogous syndrome in dogs is present in the MYO5A gene. The mode of inheritance is autosomal recessive, so that only animals in which both genes are defective will develop the disease. The severity of the symptoms requires humane euthanasia.

Genetic test in Shop: Article No.: GSD144

Centronuclear Myopathy (CNM) is a hereditary muscle disease in Labrador Retrievers. The disease leads to muscle degeneration, uneven gait and a lack of patellar reflex.

The inheritance is autosomal recessive.

Synonym: Labrador Retriever Myopathy (LRM), hereditary myopathy of labrador retrievers (HMLR).

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Cerebellar Abiotrophy (CA) describes ataxia in horses due to progressive death of brain cells responsible for movement. Affected animals show balance, coordination, and movement disorders, which pose a high risk of injury to both animal and rider. Depending on the severity, the animals suffer greatly from this disease, which is why euthanasia is often considered.

The disease occurs in Arabians and related breeds and is inherited autosomal recessively.

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Cerebellar hypoplasia (also known as "Dandy-Walker-like malformation" DWLM) is a genetically caused malformation of the cerebellum. This leads to disorders and failures of body functions that are controlled by the cerebellum, especially movements. Symptoms are ataxia, epileptic seizures and tremor.

The disease occurs in Eurasiers. The inheritance is autosomal recessive.

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Also in the Eurasier 'DWLM + 2 colours' package

The Champagne mutation lightens the coat, mane and tail of the horse (dilution). Less colour pigments are produced and the base colour appears faded. Depending on the base colour of the horse, different champagne shades appear: Classic Champagne (black), Gold Champagne (chestnut), Amber Champagne (bay).

One copy of the gene is sufficient (Ch/n or Ch/Ch) to trigger the dilution of the coat colour. It can easily be confused with other dilution factors and occur in combination with those e.g. with cream dilution.

Genetic Test: available in Shop

Also in the Dilution package

Collie eye anomaly (CEA) is a developmental disorder of the eye characterised by choroidal hypoplasia (underdevelopment) and can lead to blindness in severe cases.

The disease occurs in Collie, Border Collie, Australian Shepherd and Shetland Sheepdog. The inheritance is autosomal recessive.

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Cone-rod dystrophy 3 (crd3) is an eye disease in which the cones and rods on the retina degenerate. Clinical symptoms usually appear in the first 3 weeks of life and lead to total blindness in early adulthood.

The disease occurs in the wirehaired Dachshund (Teckel). The inheritance is autosomal recessive.

Synonym: crd-PRA

Genetic Test: available in Shop