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H431

Osteogenesis Imperfecta (OI), also known as Brittle Bone Disease, is a hereditary disease and is characterised by extremely fragile bones and teeth.

Working days 10

Specifiche

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Also known as

Year Published

Informazioni generali

Osteogenesis Imperfecta (OI), also known as Brittle Bone Disease, is a hereditary disease and is characterised by extremely fragile bones and teeth. Defects in the structure of the collagen leads to Osteogenesis Imperfecta.

This variant of OI, found in the Dachshund, is caused by a recessive mutation to the gene SERPINH1.

Caratteristiche cliniche

This disease is characterised by extremely fragile bones and teeth. It is sometimes also accompanied by other complications like blue sclera, hearing loss, dwarfism and discoloured teeth.

Informazioni aggiuntive

Riferimenti

Pubmed ID: 19629171

Omia ID: 1483

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