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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 | 13 |
| Mutation | c.716C>T |
| 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 is caused by a recessive mutation to the gene ENAM, and is found in the Parson Russell Terrier and Jack Russell Terrier.
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: 1805
Omia variant ID: