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.
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.
Von Willebrand disease II (vWD Type 2), an inherited bleeding disorder, results from a lack or reduced level of a normal blood clotting protein and is characterized by spontaneous hemorrhaging and prolonged bleeding after physical trauma. vWD Type 2 is rare.
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.
