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Dog DNA testing illustration

Amelogenesis Imperfecta (AI) – Russel Terrier

Code: H679

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

Amelogenesis Imperfecta (AI), also known as Familial Enamel Hypoplasia (FEH), represents a heterogeneous group of hereditary disorders affecting tooth enamel.

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.

Specifications

Breeds

Jack Russell Terrier, Parson Russell Terrier

Gene

ENAM

Chromosome

13

Mutation

c.716C>T

Organ

Digestive System

Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Autosomal Recessive

Also known as

AI; FEH

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.

References

Pubmed ID: 30877375

Year published: 2019

Omia ID: 1805

Omia variant ID:

Turnaround information

  • 15 working days