Lexicon

Hyperkalemic Periodic Paralysis (HYPP) is caused by a malformed channel protein in skeletal muscle cells and results in temporary paralysis due to malfunctioning signal transmission from the brain to the muscles/organs.

The disease occurs in the Quarter Horse and related breeds. The inheritance is incomplete autosomal dominant.

In Hyperuricosuria and Hyperuricaemia (HUU), dogs excrete uric acid instead of allantoin in their urine. This causes increased formation of urinary stones, which can lead to problems.

The disease occurs in many breeds. It is inherited autosomal recessively.

Synonym: Urolithiasis

Genetic Test: available in Shop (in Labrador Retriever B package)

Ichthyosis (PNPLA1-related) is a cornification disorder of the skin. This leads to defects in the development of the outer layer of the epidermis. Affected animals show increased scaling (desquamation) and detachment of the outer skin layer.

The hereditary disease occurs in the Golden Retriever. The inheritance is autosomal recessive.

Synonym: ICT-A

Genetic Test: available in Shop

Also in the Golden Retriever A package (DRC P2)

→ Coat pattern with negative effects on skin, coat, teeth and eyes

Junctional Epidermolysis Bullosa (JEB) is a skin disease that causes skin lesions and blistering due to a lack of connection between the individual skin layers. There may also be problems with their footpads.

The disease occurs in the German Shorthair Pointer. It is inherited in an autosomal recessively way.

Genetic Test: available in Shop

Juvenile myoclonic epilepsy (JME) is a form of epilepsy with sudden, electroshock-like muscle twitches and seizures. These often occur during the initial sleep phase or can also be triggered by sudden bright light. Most dogs have daily seizures.

The disease occurs in the Rhodesian Ridgeback. The inheritance is autosomal recessive.

Synonym: generalized myoclonic epilepsy

Genetic Test: available in Shop

The Leopard-Complex leads to extensive white colouration on the hip region or the whole body with pigmented spots ("leopard spots"). There is a great variety of pattern expression: Variable amount of white, variable pigmentation of the spots, spots with and without fringe etc., the exact genetics of the pattern (distribution) is not yet fully understood.

Other characteristic traits are white stripes on hooves, visible white sclera in eyes, speckled/mottled skin around the eyes, muzzle and genital regions, progressive “varnish roan” coat color.

The pattern 1 mutation can strongly influence the amount of white in leopard spotted horses.

Leopard-Complex is associated with the Congenital Stationary Nightblindness (CSNB) if two copies (LP/LP) are present.

Malignant Hyperthermia (MH) is also known as "Canine Stress Syndrome (CSS)". Affected animals exhibit symptoms such as high fever, muscle cramps/stiffness, or respiratory distress. Some affected animals appear healthy, but exhibit the above symptoms under stress.

The disease occurs in many breeds. The inheritance is autosomal dominant. It occurs when one or both copies of the gene (n/MH or MH/MH) are affected by the mutation.

Genetic Test: available in Shop

Malignant hyperthermia (MH) causes anesthesia- or stress-induced muscle rigidity with fever and respiratory distress. MH results in death of the horse in approximately 34% of cases.

The disease occurs in Quarter Horses and related breeds. The inheritance is autosomal dominant.

Genetic Test: available in Shop

The dog has black markings over the muzzle and face ("mask"). This colour pattern is caused by the Em allele of the extension locus.

See: Extension (Coat colour E-Locus Dog)