Lexicon

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.

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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

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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.

Genetic parentage assessment is an indispensable tool in animal breeding and husbandry, especially for checking parent animals and ensuring correct breeding lines. A key statistical tool in this context is the likelihood ratio (LR). The concept quantifies the probability of two competing hypotheses about the parentage of an animal. The calculation of the LR in animal breeding must take into account that there may be doubts about the identity of both parents.

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.

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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.

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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)

Merle coloured dogs show a pattern of darker and lighter patches which appears random. The eyes may be lighter or blue in colour.

The colour is caused by the M allele of the M locus. Homozygous animals (M/M) have severe health problems such as deafness, blindness and organ problems.

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MDR1 deficiency (ABCB1-1Δ) is a hereditary drug intolerance in dogs caused by a mutation in the ABCB1 gene. It can lead to severe, sometimes life-threatening side effects when certain drugs are administered in normal doses. Collies and related breeds are particularly affected by this gene variant, but other breeds can also be carriers. The risk can be reliably determined with a simple DNA test. Details on causes, symptoms, testing procedures, affected breeds, and breeding practices can be found in the main article.

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Muscle Integrity Myopathy (formerly known as "PSSM2") is form of Exertional Myopathy (link in those words), in which the structure and/or function of the muscle is disrupted.  It is caused by hereditary predisposition and various environmental factors (age, feeding, husbandry). Typical symptoms can include unexplained lameness, muscle stiffness, difficulties with gait changes/coordination, reluctance to move, muscle atrophy and/or difficulty building muscle. Almost any breed of horse can be affected.
Six genetic variants that can disrupt muscle structure and/or function have been identified in horses. These predispose a horse to developing symptoms of exertional myopathy.

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