PuSH - Publication Server of Helmholtz Zentrum München

Meyer, M. ; Ortiz, O. ; Hrabě de Angelis, M. ; Wurst, W. ; Kühn, R.

Modeling disease mutations by gene targeting in one-cell mouse embryos.

Proc. Natl. Acad. Sci. U.S.A. 109, 9354-9359 (2012)
DOI PMC
Gene targeting by zinc-finger nucleases in one-cell embryos provides an expedite mutagenesis approach in mice, rats, and rabbits. This technology has been recently used to create knockout and knockin mutants through the deletion or insertion of nucleotides. Here we apply zinc-finger nucleases in one-cell mouse embryos to generate disease-related mutants harboring single nucleotide or codon replacements. Using a gene-targeting vector or a synthetic oligodesoxynucleotide as template for homologous recombination, we introduced missense and silent mutations into the Rab38 gene, encoding a small GTPase that regulates intracellular vesicle trafficking. These results demonstrate the feasibility of seamless gene editing in one-cell embryos to create genetic disease models and establish synthetic oligodesoxynucleotides as a simplified mutagenesis tool.
Altmetric
Additional Metrics?
[➜Log in]
Edit extra informations Login
Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords ZINC-FINGER NUCLEASES; HERMANSKY-PUDLAK-SYNDROME; KNOCKOUT RATS; GENOME MANIPULATION; PROTEIN-TRAFFICKING; MICE; RAB38; MICROINJECTION; BIOGENESIS; DISRUPTION
ISSN (print) / ISBN 0027-8424
e-ISSN 1091-6490
Journal Proceedings of the National Academy of Sciences of the United States of America
Quellenangaben Volume: 109, Issue: 24, Pages: 9354-9359 Article Number: , Supplement: ,
Publisher National Academy of Sciences
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Developmental Genetics (IDG)
Institute of Experimental Genetics (IEG)