It is a congenital disorder of skeletal muscle which is manifested by the significant increase in temperature (hyperthermia) up to 45°C, accelerated and irregular heart rate (tachycardia and arrhythmia), hyperventilation, muscle rigidity and may result in renal failure and death.
The tested variant causes brown colouring of a nose ("livernose"), mucous membranes and claws. The inheritance is autosomal recessive (black allele and colour is dominant).
It is a neuromuscular disease causing a gradual muscle weakness on the hindlimb and back, which is manifested by poor coordination of movements, cramped and asymmetric walking, or incontinence.
Chondrodysplasia (CDPA) is a genetic disease causing abnormal growth of cartilage and early changes in the structure of growth plates. The affected dogs are generally characterized by a normal sized trunk and short limbs.