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Amelogenesis Imperfecta (AI), also known as familial enamel hypoplasia (FEH), is an autosomal recessive hereditary condition caused by a mutation in the ENAM gene.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 13 |
| Mutation | c.1991_1995delTTTCC |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | AI; FEH |
General information
Amelogenesis Imperfecta (AI), also known as familial enamel hypoplasia (FEH), is an autosomal recessive hereditary condition caused by a mutation in the ENAM gene. This gene is involved in a process known as amelogenesis: the formation and deposition of enamelin, which is an important component of the enamel of the teeth. This variant of the disorder is found in the Italian Greyhound.
Clinical features
Affected dogs have characteristic small, pointy teeth and are prone to increasing gaps between teeth with age. Also it is characterised by enamel pitting and tooth discoloration. Because dogs may be prone to more dental diseases, regular dental checkups are advised.
Additional information
References
Pubmed ID: 23638899
Year published: 2013
Omia ID: 1805
Omia variant ID: