Background
During the last decades, a large number of scientific publications have described the genetic principles of coat colour and coat variation. Coat colours and coat variations are influenced by many hereditary factors. The DNA-tests are based on physiological effects in the body, in which the production and distribution of pigments result in many coat colour variants. In several cases, the coat colour of an animal may only be decided using DNA-tests. The Appaloosa spotting pattern, also known as Leopard Complex spotting (LP) includes a highly variable group of white spotting- or depigmentation patterns in horses. Appaloosa horses have three additional identifiable characteristics: mottled skin around the muzzle, anus and genitalia, striped hooves and white sclera round the eyes. LP is the result of an incompletely dominant mutation in the TRPM1 gene, also known as the LP gene. The LP gene allows for the expression of the various leopard complex spotting patterns while other genes determine the extent (or amount) of white. One of the genes that is associated with increased amount of white in in LP horses has been identified (RFWD3) and has been termed Pattern-1 (PATN1) for first pattern gene. The Coat Colour Appaloosa Pattern-1 (PATN1) test (P305) tests for the status of the PATN1 gene. This gene has two variants (alleles). The dominant allele PATN1 results in an increased amount of white in horses that carry at least one copy of the LP allele on the LP gene. The recessive allele N does not have an effect on the basic colour. Horses that have one copy of the LP allele, in combination with at least one copy of the PATN1 allele most often have a Leopard or a near Leopard pattern. Horses that have two copies of the LP allele in combination with at least one copy of the PATN1 allele most often have a Few-spot or near Few spot pattern. Horses that have at least one copy of the PATN1 allele but do not have a copy of the LP allele will not have a Appaloosa spotting pattern but can pass on the PATN1 allele to their offspring.
Test specific information
Since 2015, two brands have been developed. CombiGen?
is mainly directed at veterinarian applications, whereas CombiBreed?
is mainly directed at breeders and/or owners.Detailed information about Coat Colours and Coat Variation is presented at www.pharmaDNA.com.
Age
Symptoms will develop at a young age. Within a few hours to a maximum of several weeks after birth, the characteristics that go with these genetic effects will become visible.
Throughput
Normally the result can be expected within 15 working days. This turn-around-time starts when both the sample and the fully filled-out and signed submission form have been received.
Location of disease or trait
Genetic factors influencing coat colours and coat types are usually visible on the outside of an individual. Several factors may be hidden by the external variation.
Breed dependence
This DNA test is available for the following breeds: Appaloosa, Miniature Horse, British Spotted Ponies, Knabstruppers, Pony of the Americas.
Sample type
For this DNA test we accept the following materials: Blood EDTA, Blood Heparin, Semen, Hair, Tissue. Please contact PharmaDNA if you wish to submit other material as listed.
Result
Inheritance
This genetic factor is inherited in an autosomal, dominant, mode. This means, that the individual can be free of the mutation (homozygote normal), affected (homozygous affected) or carrier (heterozygous affected). Both carriers and affected individuals will show symptoms of the mutation.
Severity of Disease
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