Ontology highlight
ABSTRACT:
SUBMITTER: Liao W
PROVIDER: S-EPMC3466526 | biostudies-literature | 2012 Sep
REPOSITORIES: biostudies-literature
Liao Wanqin W Zhao Rongsen R Lu Liting L Zhang Rongrong R Zou Jiawei J Xu Tao T Wu Changjie C Tang Jiajia J Deng Yuezhen Y Lu Xincheng X
Cell cycle (Georgetown, Tex.) 20120816 17
Osteopetrosis, a disorder of skeletal bone, can cause death during childhood. We previously described a new spontaneous autosomal recessive osteopetrosis mouse mutant, "new toothless" (ntl). In this study, we reported for the first time the identification, cloning and characterization of the coiled-coil domain-containing 154 (CCDC154), a novel gene whose deletion of ~5 kb sequence including exons 1-6 was completely linked to the ntl mutant. The CCDC154 was conserved between mouse and human and i ...[more]