First Author | Ahting U | Year | 2009 |
Journal | Biochim Biophys Acta | Volume | 1787 |
Issue | 5 | Pages | 371-6 |
PubMed ID | 19111522 | Mgi Jnum | J:149173 |
Mgi Id | MGI:3847849 | Doi | 10.1016/j.bbabio.2008.12.001 |
Citation | Ahting U, et al. (2009) Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import. Biochim Biophys Acta 1787(5):371-6 |
abstractText | The Tim23 protein is the key component of the mitochondrial import machinery. It locates to the inner mitochondrial membrane and its own import is dependent on the DDP1/TIM13 complex. Mutations in human DDP1 cause the Mohr-Tranebjaerg syndrome (MTS/DFN-1; OMIM #304700), which is one of the two known human diseases of the mitochondrial protein import machinery. We created a Tim23 knockout mouse from a gene trap embryonic stem cell clone. Homozygous Tim23 mice were not viable. Heterozygous F1 mutants showed a 50% reduction of Tim23 protein in Western blot, a neurological phenotype and a markedly reduced life span. Haploinsufficiency of the Tim23 mutation underlines the critical role of the mitochondrial import machinery for maintaining mitochondrial function. |