The Enamel Phenotype in Homozygous Fam83h Truncation Mice.

Shih-Kai WangYuanyuan HuCharles E SmithJie YangChunhua ZengJung-Wook KimJan C-C HuJames P Simmer

Published in: Molecular genetics & genomic medicine (2019)

Considering Fam83h-/- mice showed no enamel phenotype, while Fam83hTr/Tr (p.Tyr297*) mice displayed obvious enamel malformations, we conclude that FAM83H truncation mutations causing ADHCAI in humans disturb amelogenesis through a neomorphic mechanism, rather than haploinsufficiency.

Keyphrases

high fat diet induced
type diabetes
adipose tissue
metabolic syndrome