Four mutations that produce long-haired coats in domestic cats have been identified in a single gene. Three of the mutations are fairly breed specific, while the fourth is present in all long-haired cat breeds and crossbreds.
Cats affected by hypertrophic cardiomyopathy are at risk of sudden cardiac death. In Maine Coons, a breed-specific mutation has been found to be associated with increased risk for HCM.
Dilute is an autosomal recessive trait that causes clumping and uneven distribution of pigment granules in the hair shaft, producing dilution of all coat colors.
Cats with colored 'points' have genetic mutations associated with temperature-sensitive pigment production. Pigment production is reduced in warmer areas of the body, leading to darker pigmentation in the cat's cooler extremities (paws, ears, etc.)
The agouti signaling protein interacts with the melanocortin 1 receptor to switch between black and red pigments, creating a banding pattern in individual hairs. Mutations in the agouti signaling protein gene (ASIP) prevent this switch from occurring, resulting in hairs of uniform color.
Spinal muscular atrophy (SMA) is characterized by progressive instability with unsteady gait and posture abnormalities due to loss of motor neurons in the lower spinal cord and atrophy of muscles in the hind limbs.
Erythrocyte pyruvate kinase deficiency (PK deficiency) is an inherited hemolytic anemia caused by insufficient activity of its namesake regulatory enzyme.
