Lexicon

Neuronal ceroid lipofuscinosis 5 (NCL5) is a metabolism-induced neurodegenerative disease caused by a deletion of two base pairs in exon 4 of the CLN5 gene. In this disease, the waste product of cell metabolism, ceroid lipofuscin, is stored in the cells and is not metabolised further. This accumulates in the nerve cells of the retina and brain. Affected animals therefore show symptoms such as visual disorders, balance disorders and later completely disoriented behaviour and physical degeneration.

The disease occurs in Golden Retrievers. The inheritance is autosomal recessive.

Genetic Test: available in Shop

Also in the Golden Retriever B package (DRC P4)

Oculoskeletal dysplasia 1 (OSD1) is caused by a lack or deficiency of collagen in the cartilage and ocular collagen, resulting in malformations (dysplasia) of both the skeleton and the eyes. Affected dogs show dwarfism due to short legs, especially the front legs. Retinal detachments and cataracts in the eye occur, resulting in blindness.

The disease occurs in the Labrador Retriever. It is inherited in an autosomal recessive manner.

Synonym: Retinal dysplasia (RD)

Genetic Test: available in Shop

With osteogenesis imperfecta (brittle bone disease - OI) a reduction and malformation in the synthesis of collagen occurs, which is a major component of bone. As a result, affected animals have brittle bones and teeth and unusually elastic joints.

The disease occurs in dachshunds and is caused by a mutation in the SERPINH1 gene. The inheritance is autosomal recessive.

Genetic Test: available in Shop

The PATN1 gene modifies the Leopard complex and together they lead to a increased amount of white in the pattern of at least 60% of the body, mostly to a full Leopard spotting.

If there is a mutation in the PATN1 gene but no Leopard complex, the PATN1 gene has no effect on the coat colour and the horse is a carrier for the mutation without being spotted itself.

Genetic Test: available in Shop

Also in the Leopard package

The Pearl mutation lightens the coat, mane and tail colour of the horse. It is visually very similar to champagne dilution and is located on the same gene as the cream dilution factor. The Pearl mutation is mainly found in Quarter Horses, Paints and related breeds.

Polioencephalopathy is characterized by initial onset of movement disorder episodes and progressive impairment of motor function, but preserved consciousness and behavior. For an inborn form of PE in Eurasier dogs a potential causative genetic variant has been discovered in the MECR gene in a small UK-based family. In this family the variant is consistent with an autosomal recessive mode of inheritance. Current studies are focused on determining the prevalence of this genetic variant in unrelated lineages and evaluating its broader contribution to the genetic etiology of polioencephalopathy within the breed.

Height in animals depends on various factors (e.g. genes, environment and their combination). A genetic variation has been discovered for the height of ponies. A base pair change in the HMGA2 gene can influence/reduce height. This is especially influential in Shetland ponies and related breeds.

In Shetland ponies, this test allows breeders to estimate the height of offspring. Here, the ponies are assigned to three height groups: A/A (Small: ~ 84 cm), A/G (Medium Small: ~ 98 cm) and G/G (Normal: ~ 104 cm). 

The test is also appropriate for other pony and miniature horse breeds.

Height in animals depends on various factors (e.g. genes, environment and their combination). Genetic variation has been discovered for the Height of warmblood horses. A base pair in the LCORL regulatory unit (on the third chromosome) determines to a large extent what height the horse will become.

This test allows breeders to estimate the height of the offspring with an accuracy of 70% (+/- 5 cm). Here, the horses are assigned to three height groups: T/T (Normal height: ~ 159 cm), C/T (Medium height: ~ 164 cm) and C/C (Tall height: ~ 169 cm).

This genetic variation has a less predictable effect on height in non-warmblood horses.

Genetic Test: available in Shop

Progressive retinal atrophy type I (GR-PRA 1) is caused by degeneration of the retinal photoreceptor cells and, in the course of the disease, the entire retina is destroyed. Affected animals go blind.

The hereditary disease is one of the three forms of PRA in the Golden Retriever. The inheritance is autosomal recessive.

Genetic Test: available in Shop

Also in the Golden Retriever B package

Progressive retinal atrophy type II (GR-PRA 2) is caused by degeneration of the retinal photoreceptor cells and, in the course of the disease, the entire retina is destroyed. Affected animals go blind.

The hereditary disease is one of the three forms of PRA in the Golden Retriever. The inheritance is autosomal recessive.

Genetic Test: available in Shop

Also in the Golden Retriever B package (DRC P4)