Lexicon
Pearl (Dilution factor Horse)
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 (PE) Eurasier
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.
Predictive Height Test (HMGA2 Pony)
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.
Predictive height test (LCORL Horse)
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 1 (GR-PRA 1 Golden Retriever)
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 2 (GR-PRA 2 Golden Retriever)
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)
Progressive rod-cone degeneration (prcd-PRA Dog)
Progressive rod-cone degeneration (prcd-PRA) 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, but also occurs in many other breeds. The inheritance is autosomal recessive.
Genetic Test: available in Shop
Also in the Labrador Retriever A Paket (DRC P1)
PSSM1 (Polysaccharide Storage Myopathy 1 Horse)
Polysaccharide storage myopathy (PSSM1) is a degenerative muscle disease caused by a disorder of sugar metabolism. Affected horses show symptoms such as reluctance to move, muscle tremors and tension.
The disease occurs in many breeds. The inheritance is incomplete autosomal dominant.
Genetic Test: available in Shop
Recessive Black (Coat colour A-Locus Dog)
The dog is black all over the body, the hairs are not bicoloured (brown/black) as in the other agouti genes. This colouration is caused by the recessive a allele of the Agouti locus.
ROH Profiles - Determination and Applications
Runs of Homozygosity (ROH) are contiguous stretches of homozygous genotypes that can be found in an individual's genome. They arise from the inheritance of identical segments of DNA from both parents, often due to mating between relatives. Analyzing ROH can provide valuable insights into genetic diversity, inbreeding levels, and overall health of populations.
ROH profiles, along with the genomic inbreeding coefficient (GIC) and heterozygosity values (HE) , are modules of genome-based evaluation for inbreeding & fitness and for mating planning based on this, taking genetic diversity/inbreeding into account.