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H701

Copper Toxicosis, otherwise known as Wilson Disease, is a complex genetic disease that occurs in several different dog breeds.

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Caractéristiques

Breeds

,

Gene

Chromosome

10

Mutation

exon 2 deletion in the COMMD1 gene

Mode of Inheritance

Autosomique récessif

Organ

Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Also known as

Wilson disease

Informations générales

Copper Toxicosis, otherwise known as Wilson Disease, is a complex genetic disease that occurs in several different dog breeds. A dog that retains too much copper from its diet suffers from copper toxicosis, which causes liver damage and associated negative effects.

In the Bedlington Terrier, a recessive mutation to the gene COMMD1 (also known as MURR1) is known to cause elevated copper levels, resulting in copper toxicosis.

Caractéristiques cliniques

Clinical signs of liver damage as a result of copper toxicosis can include an inflamed liver, anorexia, vomiting, lethargy, weight loss, jaundice and a swollen abdomen.

Copper toxicosis can be mitigated with a low-copper, high-zinc specialized diet.

Additional Information

Although copper toxicosis in Bedlington Terriers was historically caused by a mutation in COMMD1, selection against this mutation has greatly reduced its prevalence in the breed. However, the ATP7B mutation was already present at low frequency and appears to have been inadvertently selected for. As a result, the ATP7B mutation is now more common than in the past and is responsible for most cases of copper toxicosis in modern Bedlington Terriers.

Références

Pubmed ID: 16293123

Year published: 2005

Omia ID: 1988

Omia variant ID: 643

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