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. Author manuscript; available in PMC: 2015 Sep 22.
Published in final edited form as: Nat Rev Endocrinol. 2014 Aug 19;10(10):582–591. doi: 10.1038/nrendo.2014.143

Table 2.

Thrα mutant mouse models phenotypically similar to patients with RTHα

Mutation* Able to bind T3 Affected systems or phenotype Reference
Pro398His 50% decreased Obesity, heart Liu et al. (2003)106
Thr394fsX17‡ No Bone, dwar sm O’Shea et al. (2005)100
Leu400Arg Yes Dwar sm, cerebellum Quignodon et al. (2007)101
Arg384Cys Partially impaired Bone, delayed growth Tinnikov et al. (2002)104
*

Artificial mutation.

‡

PV mutation.

Abbreviation: RTHα, resistance to thyroid hormone α