The Dominant Black gene (K Locus) affects pigment switching between eumelanin (black) and phaeomelanin (red or yellow) by interacting with the Agouti and MC1R genes.
Several gene variants are known to produce dilute coloration in dogs. Colors are lightened (diluted) to paler shades as a result of the variants' effects on pigmentation.
The melanocortin 1 receptor (MC1R) gene controls production of the pigments eumelanin (black) and phaeomelanin (red/yellow). Six known variants of this gene are responsible for producing markings and coat colors including melanistic mask, grizzle/domino, black, and shades of red/yellow.
Chondrodysplasia is a short-legged phenotype characteristic of many dog breeds. Chondrodystrophy, a separate mutation, also includes a short-legged phenotype as well as premature disc degeneration and increased susceptibility to disc herniation.
Loss of cone function due to cone degeneration results in day-blindness and decreased visual acuity. There are 2 known mutations of the CNGB3 gene that cause canine cone degeneration day-blindness in dogs.
Hyperuricosuria is an inherited disorder characterized by elevated levels of uric acid in the urine that can lead to the formation of bladder/kidney stones.
Degenerative myelopathy (DM) is an inherited neurologic disorder of dogs characterized by gradual muscle wasting and loss of coordination typically beginning in the hind limbs. Testing is most appropriate for those breeds in which the clinical disease has been associated with the SOD1 allele.
Canine multifocal retinopathy 1 is an inherited eye disease characterized by areas of retinal detachment. The disease does not typically lead to blindness or vision deficits.
