Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 2014-04-01

A novel mutation in thethyroglobulingene that causes goiter and dwarfism in Wistar Hannover GALAS rats

Akira Sato, Kuniya Abe, Misako Yuzuriha, Sakiko Fujii, Naofumi Takahashi, Hitoshi Hojo, Shoji Teramoto, Hiroaki Aoyama

Index: Mutat. Res. Fundam. Mol. Mech. Mutagen. 762 , 17-23, (2014)

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Abstract

• A novel mutation was found in thyroglobulin (Tg) gene in Wistar Hannover GALAS rats. • A SNP at the acceptor site of 6th intron caused aberrant expression of Tg mRNA. • Mutant phenotypes, goiter and dwarfism, mimicked those caused by goitrogens. • Bimodal dose-responses in thyroidal weights could be attributed to the Tg mutation. • A genomic DNA-based diagnosing method was developed for detecting the Tg mutation.