The Enamel Phenotype in Homozygous Fam83h Truncation Mice.

ABSTRACT:

Background

Truncation FAM83H mutations cause human autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI), an inherited disorder characterized by severe hardness defects in dental enamel. No enamel defects were observed in Fam83h null mice suggesting that Fam83h truncation mice would better replicate human mutations.

Methods

We generated and characterized a mouse model (Fam83h^Tr/Tr ) expressing a truncated FAM83H protein (amino acids 1-296), which recapitulated the ADHCAI-causing human FAM83H p.Tyr297* mutation.

Results

Day 14 and 7-week Fam83h^Tr/Tr molars exhibited rough enamel surfaces and slender cusps resulting from hypoplastic enamel defects. The lateral third of the Fam83h^Tr/Tr incisor enamel layer was thinner, with su

SUBMITTER: Wang SK 

PROVIDER: S-EPMC6565571 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature