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Lexicon

Cream (Dilution factor Horse)

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.

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Cream | yellow | red (Coat colour E-Locus Dog)

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)

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Curly Coat (Coat type Dog)

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).

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Cystinuria

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.

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Cystinuria type IA (Cys1A Labrador Retriever)

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.

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Cystinuria type IA (Cys1A Newfoundland dog)

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.

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Degenerative Myelopathy (DM dog)

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.

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Dermoid Sinus

Dermoid sinuses are malformations of the skin as a result of a genetic defect. In the area of the dorsal line, a tube-like invagination of the skin develops which varies individually in depth and opening and, in extreme cases, extends from the surface to the spine.

 

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Dominant Black (Coat colour K-Locus Dog)

The base colour of the dog is determined by the interaction of the the K locus (BlacK), A locus (Agouti) and the E locus (Extension). The alleles of these loci determine if and where the pigment eumelanin (black colour) and the pigment phaeomelanin (red colour) can be produced and how these two are distributed over the body.

The K locus has different alleles which determine if and where the pigment phaeomelanin can be produced in addition to eumelanin.

The KB allele is inherited dominantly and codes for a black coat colour, pheomelanin (red/light colour) cannot be produced additionally. The dog has a black coat colour over the whole body (Dominant Black).

 

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Dun (Dilution factor Horse)

Dun is a dilution of the base colour in combination with primitive markings (stripes on legs and one along the back). Dun is the original coat colour of all horses ("wild type"). Depending on the base colour of the horse, different colourings occur: Red Dun (chestnut), Yellow Dun (bay), Blue Dun (black).


Over time, two mutations have emerged that produce a different phenotype. The nd1 mutation allows a partial function of the gene, the horse then has a non-diluted coat colour (vibrant) with primitive markings ("pseudo dun"). The nd2 mutation switches off the gene function completely, so that the horse has a non-diluted coat colour without primitive markings. This is the most common phenotype in most horse breeds today.

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