ENU mutagenesis screen to establish motor phenotypes in wild-type mice and modifiers of a pre-existing motor phenotype in tau mutant mice

Liu, Xin, Dobbie, Michael, Tunningley, Rob, Whittle, Belinda, Zhang, Yafei, Ittner, Lars M. and Gotz, Jurgen (2011) ENU mutagenesis screen to establish motor phenotypes in wild-type mice and modifiers of a pre-existing motor phenotype in tau mutant mice. Journal of Biomedicine and Biotechnology, 2011 130947.1-130947.11. doi:10.1155/2011/130947


Author Liu, Xin
Dobbie, Michael
Tunningley, Rob
Whittle, Belinda
Zhang, Yafei
Ittner, Lars M.
Gotz, Jurgen
Title ENU mutagenesis screen to establish motor phenotypes in wild-type mice and modifiers of a pre-existing motor phenotype in tau mutant mice
Journal name Journal of Biomedicine and Biotechnology   Check publisher's open access policy
ISSN 1110-7243
1110-7251
2314-6141
2314-6133
Publication date 2011
Sub-type Article (original research)
DOI 10.1155/2011/130947
Open Access Status DOI
Volume 2011
Start page 130947.1
End page 130947.11
Total pages 11
Place of publication New York, NY, United States
Publisher Hindawi Publishing Corporation
Language eng
Abstract Modifier screening is a powerful genetic tool. While not widely used in the vertebrate system, we applied these tools to transgenic mouse strains that recapitulate key aspects of Alzheimer's disease (AD), such as tau-expressing mice. These are characterized by a robust pathology including both motor and memory impairment. The phenotype can be modulated by ENU mutagenesis, which results in novel mutant mouse strains and allows identifying the underlying gene/mutation. Here we discuss this strategy in detail. We firstly obtained pedigrees that modify the tau-related motor phenotype, with mapping ongoing. We further obtained transgene-independent motor pedigrees: (i) hyperactive, circling ENU 37 mice with a causal mutation in the Tbx1 genethe complete knock-out of Tbx1 models DiGeorge Syndrome; (ii) ENU12/301 mice that show sudden jerky movements and tremor constantly; they have a causal mutation in the Kcnq1 gene, modelling aspects of the Romano-Ward and Jervell and Lange-Nielsen syndromes; and (iii) ENU16/069 mice with tremor and hypermetric gait that have a causal mutation in the Mpz (Myelin Protein Zero) gene, modelling Charcot-Marie-Tooth disease type 1 (CMT1B). Together, we provide evidence for a real potential of an ENU mutagenesis to dissect motor functions in wild-type and tau mutant mice. Copyright
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: Queensland Brain Institute Publications
 
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