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Amelogenesis Imperfecta (AI), also known as Familial Enamel Hypoplasia (FEH), represents a heterogeneous group of hereditary disorders affecting tooth enamel.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 1 |
| Mutation | c.1189dupG |
| 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), represents a heterogeneous group of hereditary disorders affecting tooth enamel. The condition uniformly affects deciduous and permanent teeth and is manifested by enamel roughening/thinning and brownish mottling.
This variant of the disorder, also known as Amelogenesis Imperfecta 3, is found in the Akita Inu. It is caused by a recessive mutation to the gene ACPT (also known as ACP4).
Clinical features
Affected teeth are often small and pointed with increased gaps. No tissues or organs other than teeth are affected by this disease. AIl disorders can be classified in hypoplastic, hypomaturation and hypomineralized types.
Additional information
References
Pubmed ID: 30877375
Year published: 2019
Omia ID: 2177
Omia variant ID: