The Enamel Phenotype in Homozygous Fam83h Truncation Mice

ConclusionsConsideringFam83h−/− mice showed no enamel phenotype, whileFam83hTr/Tr (p.Tyr297*) mice displayed obvious enamel malformations, we conclude thatFAM83H truncation mutations causing ADHCAI in humans disturb amelogenesis through a neomorphic mechanism, rather than haploinsufficiency.

Source: Molecular Genetics & Genomic Medicine - May 5, 2019 Category: Genetics & Stem Cells Authors: Shih ‐Kai Wang, Yuanyuan Hu, Charles E. Smith, Jie Yang, Chunhua Zeng, Jung‐Wook Kim, Jan C‐C. Hu, James P. Simmer Tags: ORIGINAL ARTICLE Source Type: research