Article
A gain-of-function mutation in Tnni2 impeded bone development through increasing Hif3a expression in DA2B mice.
PLoS genetics - 1 Oct 2014
Zhu Xiaoquan, Wang Fengchao, Zhao Yanyang, Yang Peng, Chen Jun, Sun Hanzi, Liu Lei, Li Wenjun, Pan Lin, Guo Yanru, Kou Zhaohui, Zhang Yu, Zhou Cheng, He Jiang, Zhang Xue, Li Jianxin, Han Weitian, Li Jian, Liu Guanghui, Gao Shaorong, Yang Ze
Abstract excerpt
Distal arthrogryposis type 2B (DA2B) is an important genetic disorder in humans. However, the mechanisms governing this disease are not clearly understood. In this study, we generated knock-in mice carrying a DA2B mutation (K175del) in troponin I type 2 (skeletal, fast) (TNNI2), which encodes a fast-twitch skeletal muscle protein. Tnni2K175del mice (referred to as DA2B mice) showed typical DA2B phenotypes,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.