Search results for: 'DOG-PRA-PRCD'

The locus D or dilution refers to a mutation in the MLPH gene that causes a diluted coat colour. This mutation dilutes black to blue, chocolate to lilac and yellow to champagne. The mutation tested is the d^1 mutation. For the breeds Chow Chow, Sloughi and Thai Ridgeback, the test to be performed is the DOG-LOCUS-D-CHOW test.

Pyruvate kinase is an essential enzyme for energy production in red blood cells. Clinical signs are anaemia, weakness, hepatosplenomegaly. Bone marrow and liver failure usually occur before the age of 5 years. Heterozygous animals (healthy carriers) show no clinical signs, but have reduced levels of pyruvate kinase activity. Bone marrow transplants have been used to alleviate clinical signs in affected dogs.

Pyruvate kinase is an essential enzyme for energy production in red blood cells. Clinical signs are anaemia, weakness, hepatosplenomegaly. Bone marrow and liver failure usually occur before the age of 5 years. Heterozygous animals (healthy carriers) show no clinical signs, but have reduced levels of pyruvate kinase activity. Bone marrow transplants have been used to alleviate clinical signs in affected dogs.

Pyruvate kinase is an essential enzyme for energy production in red blood cells. Clinical signs are anaemia, weakness, hepatosplenomegaly. Bone marrow and liver failure usually occur before the age of 5 years. Heterozygous animals (healthy carriers) show no clinical signs, but have reduced levels of pyruvate kinase activity. Bone marrow transplants have been used to alleviate clinical signs in affected dogs.

Laryngeal paralysis (LP) in Bull Terriers and Miniature Bull Terriers is a genetic disorder that prevents the dog from abducting the arytenoid cartilages during inspiration, leading to partial airway obstruction and breathing difficulties. Clinical signs include reduced exercise tolerance, progressive laryngeal stridor, and episodes of respiratory distress. In these two breeds, the tested genetic variant is a risk factor for early-onset LP.

Pyruvate kinase is an essential enzyme for energy production in red blood cells. Clinical signs are anaemia, weakness, hepatosplenomegaly. Bone marrow and liver failure usually occur before the age of 5 years. Heterozygous animals (healthy carriers) show no clinical signs, but have reduced levels of pyruvate kinase activity. Bone marrow transplants have been used to alleviate clinical signs in affected dogs.

Hypomyelination, also known as Shaking pup syndrome, is a disorder of the nervous system caused by a defect in the myelination of the spinal cord. Affected dogs show tremors, walking difficulties, balance and coordination problems. This disease is transmitted in an X-linked recessive manner, so males carrying the mutation will all be affected. However, only females with 2 copies of the mutated allele will be affected.

Pompe disease (glycogen storage disease type II) is a genetic disorder that disrupts glucose metabolism, leading to excessive glycogen accumulation in the body. Affected dogs develop progressive muscle weakness, cardiac hypertrophy, and may present with megaesophagus accompanied by regurgitation and vomiting. This disease often causes severe cardio-respiratory complications and typically leads to premature death around 18 months of age.

Locus K or dominant black has 3 variants KB, Kbr and ky. The KB allele prevents the expression of the A or agouti locus, the coat colour is then determined by the B and E locus. The coat colour of dogs that are ky/ky will be determined by the A locus. The Kbr variant is responsible for the brindle coat but the mutation has not yet been identified.

Neuronal ceroid lipofuscinoses (NCLs) are a group of lysosomal storage diseases that affect the central nervous system, leading to early neuronal death and progressive neurodegeneration. NCL2 specifically affects dachshunds, with symptoms including vision loss, tremors, and coordination problems starting at a young age. Unfortunately, there is no known cure for NCL2, and affected dogs typically do not survive past 12 months of age.