Lexicon

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.

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Also in the Dilution package

One form of shortened legs (disproportionate dwarfism) in dogs is caused by an FGF4 retrogene at a specific site on dog chromosome 12. This mutation has also been identified as a risk factor for intervertebral disc disease (IVDD).  In IVDD, degeneration and/or calcification of the intervertebral discs occurs, causing the gelatinous core to press on the spinal cord. This causes pain and paralysis and can damage the nerves. Two types are distinguished: IVDD type 1 and IVDD type 2. This genetic test identifies the risk factor for IVDD type 1.

The disease occurs predominantly, but not exclusively, in certain short-legged dog breeds. The inheritance is incomplete autosomal dominant.  In the study in which the mutation was identified, in all studied dogs with a herniated disc, the mutation was found in homozygosity (two copies) or in heterozygosity (one copy).

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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

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Cone-rod dystrophy 4 (crd4) was first published as cord1-PRA but after a change in nomenclature it was designated as crd4-PRA. This is the reason fro the double name for the disease.

Current research indicates that crd4-PRA is a genetic form of PRA (progressive retinal atrophy) in which multiple genes work together in a complex process. The mutation in the RPGRIP1 gene is considered to be the major gene effect. The only other currently identified factor is a mutation in the MAP9 gene but more are believed to exist. Onset and severity of PRA vary depending on the presence/absence of these factors.

Only the mutation in the RPGRIP1 gene is currently testable by standard DNA analysis.

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Also in the Hereditary diseases Dachshund 1 package

Congenital myotonia (CM) is caused by a malformed channel protein in skeletal muscle cells and results in impaired movement due to muscle rigidity.

The disease occurs in the New Forest Pony and is inherited in autosomal recessivly.

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