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Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import.
Biochim. Biophys. Acta-Bioenerg. 1787, 371-376 (2009)
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.
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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
Tim23 knockout mouse; DDP1; Mitochondrial import machinery
ISSN (print) / ISBN
0005-2728
e-ISSN
1879-2650
Quellenangaben
Volume: 1787,
Issue: 5,
Pages: 371-376
Publisher
Elsevier
Non-patent literature
Publications
Reviewing status
Peer reviewed