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Ahting, U. ; Floß, T. ; Uez, N. ; Schneider-Lohmar, I. ; Becker, L. ; Kling, E. ; Iuso, A. ; Bender, A.* ; Hrabě de Angelis, M. ; Gailus-Durner, V. ; Fuchs, H. ; Meitinger, T. ; Wurst, W. ; Prokisch, H. ; Klopstock, T.

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)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
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
Corresponding Author
Keywords Tim23 knockout mouse; DDP1; Mitochondrial import machinery
ISSN (print) / ISBN 0005-2728
e-ISSN 1879-2650
Journal Biochimica et Biophysica Acta - Bioenergetics
Quellenangaben Volume: 1787, Issue: 5, Pages: 371-376 Article Number: , Supplement: ,
Publisher Elsevier
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Experimental Genetics (IEG)
Institute of Developmental Genetics (IDG)
Institute of Human Genetics (IHG)