Application: Identification of hidden alleles in breeds that show A-locus dependent variation in coat colors. The four A-Locus alleles are expressed as a hierarchy: a(y) > a(w) > a(t) > a. A- locus predispositions only take effect if there is no „K(B)“-allele at the K-Locus and at least one „E“-allele at the E-Locus. Other loci (B-Locus, D-Locus) may also influence A-Locus...

The Agouti gene (A) is involved with the production of both red (pheomelanin) and black (eumelanin) pigments. It regulates the relative amounts of each pigment produced in melanocytes (pigment-producing cells) in different regions of the horse’s body. A functional version (AA or Ae) results in a horse that has a base color of bay with black mane, tail, legs and ear tips. Two...

Application: Testing coat color 'brown' identifies animals that carry „b“-alleles. The brown coat color can develop if both genes are 'affected' (b/b) and an „E“-Allel at the E-locus is present. Effective Ay and Aw alleles at the A-locus may hide a b/b situation. 3 loci are analysed.

Horses with one or two copies of the Champagne mutation will have diluted coat color, including mane and tail. Classic Champagne (black base color), Gold Champagne (chestnut base color), Amber Champagne (bay base color) are possible.

The Cream mutation dilutes the red pigment (phaeomelanin) in the hair. It is incomplete dominant: one copy of the cream dilution (n/Cr) results in Palomino and Buckskin coat colors; Smoky Black (black carrying cream) horses look the same as normal black. With two copies of the Cream variant (Cr/Cr), the dilution effect is complete, giving the Cremello, Perlino, and Smoky...

Dun is the original coat color of all horses (wild-type). Over time, two mutations (nd1 and nd2) caused the now wide-spread undiluted phenotypes most modern horses display. Horses with one or two copies of this variant (D/D, D/nd1, D/nd2) are Dun and show the diluted coat color and the primitive markings (zebra stripes, dorsal stripe) on their legs and back. A dun horse must...

Application: - identification of heterozygous carriers
Genetic testing of the MC1R mutation c.916 C>T will determine whether a dog is a carrier of the predisposition for coat color 'yellow' / 'red'. The trait is inherited in an autosomal recessive manner, two copies of the e allele (genotype e/e) are required to have the characteristic yellow/red coat color.

Application: Carrier identification. Genetic testing of this MC1R variant will determine whether a dog is a carrier of melanistic mask alleles. The trait is inherited in an autosomal dominant manner. A single copy of the Em allele (genotype Em/E) is sufficient to have the characteristic mask.

Horses with two copies of the MC1R variant (ee) are chestnut (red, sorrel) in color. Horses with only one copy of this variant (Ee) are bay or black-based (depending upon their variants at the Agouti locus), but carry chestnut. A horse that does not carry the variant (EE) cannot have a chestnut foal, even if bred to a chestnut horse.

Frame Overo is a white spotting pattern most common in Quarter Horses, Paint Horses, and specific American Saddlebred and Throroughbred and Warmblood lines. Frame has a great phenotypic variablity; horses with the frame mutation may show the “typical” pattern, or no white at all. For this reason, all horses that may carry frame should be tested before breeding, even if they...

The test detects the mutation in the STX17 gene (a 4.6 kb intronic duplication) which is causative for the Grey coat color. It is also a risk factor for melanoma. The inheritance is autosomal dominant. Horses with one or two copies of the genetic variant (n/G or G/G) will grey with time. This test detects if a horse has one or two copies of the Grey mutation.

Application: - Identification of carriers with unclear coat markings.
Dogs with harlequin patterns have a white ground colour and black speckles of different size distributed asymmetrically over the whole body. The prerequisite is the presence of a disposition to merle. If this is the case, the harlequin pattern can be caused by a heterozygous mutation in the PSMB7 gene of...