Lexicon

Congenital myotonia (CM) is caused by a malformed channel protein in skeletal muscle cells and results in impaired movement due to muscle rigidity.

The disease occurs in the New Forest Pony and is inherited in autosomal recessivly.

Genetic Test: available in Shop

Congenital Stationary Night Blindness (CSNB) is an hereditary, non-progressive disorder of the retina where individuals have reduced or no vision in poor lighting conditions. A mutation in the GRM6 gene leads to Congenital Stationary Night Blindness Type 2 (CSNB2) when two copies of the mutation are present. This mutation is different than the one associated with Leopard Complex Spotting (TRPM1).

The Cream mutation lightens the coat, mane and tail of the horse (dilution) by reducing the amount of pigment produced in the skin cells and hair.

The Cream mutation is inherited in an incomplete autosomal dominant way, which means that animals with only one copy (Cr/n) show a less pronounced lightening than animals with two mutant alleles (Cr/Cr). If one copy of the mutation is present, less light/red pigment (pheomelanin) is deposited. If two copies are present, less of the light and dark/black pigment (eumelanin) is deposited. Horses with two copies appear almost completely white.

Genetic Test: available in Shop

Also in the Dilution package

Only the pigment phaeomelanin is produced, the dog has a red/light colour. This colouration is caused by the e-allele of the extension locus.

See: Extension (Coat colour E-Locus Dog)

Genetic Test: available in Shop

Curly Coat refers to the length and texture of the hair. The dog has wavy to curly coat. Two causative mutations have been found for this coat structure, one in the Portuguese Water Dog and one in the breeds Bichon Frise, Chesapeake Bay Retriever, Curly-coated retriever, Irish Terrier, Lagotto Romagnolo and Spanish Water Dog. Other breeds may also show this phenotype.

The genotype of the dog, i.e. which coat structure it will show, can be determined by a genetic test (KRT71 gene).

Genetic Test: available in Shop

Cystinuria is observed in many dog breeds, but is clinically evident in only a few.
The cause is a metabolic disorder caused by defects in the genes SLC3A1 and/or SLC7A9. These are responsible for amino acid transport; if they are defective due to mutations, the concentration of the amino acids cystine, ornithine, lysine and arginine ('COLA' amino acids) increases in the urine.
The poorly soluble cystine forms urinary stones. Symptoms of stone formation are: Blood in the urine, colic and even kidney failure.

As a result of the anatomical and hormonal conditions, often only the males are affected.

Cystinuria type 1A is a metabolic disease in which the kidneys cannot absorb certain amino acids. An excess of poorly soluble cystine leads to increased urinary stone formation. The urinary calculi can lead to blockage of the urinary tract and ultimately to cystitis.

The disease occurs in the Labrador Retriever and is caused by a mutation, a deletion of one base pair (c.350delG), in the SLC3A1 gene. The inheritance is autosomal recessive.

Cystinuria type 1A is a metabolic disease in which the kidneys cannot absorb certain amino acids. An excess of poorly soluble cystine leads to increased urinary stone formation. The urinary calculi can lead to blockage of the urinary tract and ultimately to cystitis.

The disease occurs in the Newfoundland dog and is caused by a mutation, change of one base pair (c.586C>T), in the SLC3A1 gene. The inheritance is autosomal recessive.

Genetic Test: available in Shop

Due to genetic causes, cats with dominant blue eyes, also known as “DBE”, often suffer from deafness. A newly developed mutation test can detect whether animals with DBE also inherit the predisposition for deafness.

DBE is caused by various mutations in the PAX3 gene, depending on the cat's breeding line. What they all have in common is a malfunction that leads to a lack of melanocytes in the eyes and skin.

DNA test DBE-RE:  Shop

In degenerative myelopathy (DM), the long spinal cord nerves slowly degenerate. As a result, symptoms develop such as reduced perception of stimuli, weakness of movement, loss of fine motor skills and finally complete paralysis of the hind and forehand.

Some time ago, a risk factor for the development of DM was discovered, a mutation in the superoxide dismutase 1 gene (SOD1 gene). SOD is an important free radical inhibitor in cells and prevents free radicals from causing significant damage to the genetic material and cell integrity. If this fails due to the mutation, the cells are increasingly damaged.

The disease occurs in many breeds, large dogs are particularly affected. The inheritance is autosomal recessive.