Lexicon
CDDY with IVDD risk and CDPA
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
DNA-Test for CDPA: Shop
Test bundle CDDY & CDPA: Shop
CDN - Griscelli Type 1 Analogous Syndrome (Dog)
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 Dog)
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).
Genetic Test: available in Shop
Cerebellar Abiotrophy (CA Horse)
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.
Genetic Test: available in Shop
Cerebellar hypoplasia | Dandy-Walker-like Malformation (DWLM Dog)
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.
Genetic Test: available in Shop
Also in the Eurasier 'DWLM + 2 colours' package
Champagne (Dilution factor Horse)
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 Dog)
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.
Genetic Test: available in Shop
Cone-rod dystrophy 3 | crd-PRA (crd3-PRA wirehaired Dachshund)
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
Cone-rod dystrophy 4 | cord1 (crd4-PRA Dachshund)
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.
Genetic Test: available in Shop
Also in the Hereditary diseases Dachshund 1 package
Congenital Myotonia (CM Horse)
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.
Genetic Test: available in Shop