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.
A variant in the Keratin-71 gene is associated with curly hair in dogs. Dogs with this curl variant have curly coats or wavy coats depending on how many copies of the variant they possess.
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.
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 Dominant Black gene (K Locus) affects pigment switching between eumelanin (black) and phaeomelanin (red or yellow) by interacting with the Agouti and MC1R genes.
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.
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.
White spotting patterns that occur in many dog breeds do not have a uniform genetic basis, and the genetics are complex. In piebald/parti/random white spotting, the extent of white pattern expression varies, and markings are often asymmetrical.
Progressive rod-cone degeneration (PRCD) is an inherited form of late-onset progressive retinal atrophy (PRA) that has been identified in many dog breeds.
Pyruvate kinase deficiency (PKDef) is an inherited hemolytic anemia caused by a defect in the enzyme pyruvate kinase. Signs in affected dogs may include lack of energy and fatigue in dogs that appear otherwise fit.
Necrotizing meningoencephalitis (NME), also known as Pug dog encephalitis, is an inflammatory disease of the central nervous system that is usually progressive and fatal. Several genetic markers are associated with risk of developing NME.