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H441

A mutation related to Thrombocytopenia in the gene encoding beta1-tubulin (TUBB1) is responsible for macrothrombocytopenia in Cavalier King Charles Spaniels.

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Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Year Published

General information

A mutation related to Thrombocytopenia in the gene encoding beta1-tubulin (TUBB1) is responsible for macrothrombocytopenia in Cavalier King Charles Spaniels. The mutation causes an abnormal protein which reduces the forming of blood platelets but they are larger (mega- or macrothrombocytes), functional is the number of offset by the size. The mutation inherits recessively.

Clinical features

Affected dogs have no problem with their blood clotting, the clinical relevance is limited by giving an explanation for the presence of macrothrombocytes during routine heamatological examination in some individuals of this breed.

Additional information

References

Pubmed ID: 18466252

Omia ID: 1001

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3. Results

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