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2 results on '"Tim23 knockout mouse"'

1. Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import

Author

Ahting, Uwe, Floss, Thomas, Uez, Nikolas, Schneider-Lohmar, Ilka, Becker, Lore, Kling, Eva, Iuso, Arcangela, Bender, Andreas, de Angelis, Martin Hrabé, Gailus-Durner, Valérie, Fuchs, Helmut, Meitinger, Thomas, Wurst, Wolfgang, Prokisch, Holger, and Klopstock, Thomas

Subjects
*MITOCHONDRIAL pathology, *MITOCHONDRIAL membranes, *PHENOTYPES, *GENETIC mutation, *PROTEINS, *NEUROLOGY, *LABORATORY mice
Abstract

Abstract: 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. [Copyright &y& Elsevier]

Published
2009
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2. Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import

Author

Andreas Bender, Martin Hrabé de Angelis, Thomas Klopstock, Helmut Fuchs, Ilka Schneider-Lohmar, Wolfgang Wurst, Arcangela Iuso, Thomas Meitinger, Lore Becker, Uwe Ahting, Eva Kling, Valerie Gailus-Durner, Holger Prokisch, Thomas Floss, and Nikolas Uez

Subjects
Genotype, Mutant, Biophysics, Biology, medicine.disease_cause, Biochemistry, Mitochondrial Membrane Transport Proteins, Tim23 knockout mouse, Mitochondrial import machinery, Mitochondrial Proteins, Mice, Life Expectancy, Forelimb, Mitochondrial Precursor Protein Import Complex Proteins, medicine, Animals, Humans, DDP1, Inner mitochondrial membrane, RBBP7, Gene, Mice, Knockout, Mutation, Hand Strength, Membrane Proteins, Membrane Transport Proteins, Cell Biology, Orofaciodigital Syndromes, Phenotype, Molecular biology, Mitochondria, Protein Transport, Blastocyst, Rotarod Performance Test, Knockout mouse, Haploinsufficiency
Abstract

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.

Published
2008

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