ENU mutagenesis screen to establish motor phenotypes in wild-type mice and modifiers of a pre-existing motor phenotype in tau mutant mice
-
Altmetric Citations
Liu, Xin; Dobbie, Michael S; Tunningley, Robert; Whittle, Belinda; Zhang, Yafei; Ittner, Lars M; Gotz, Jurgen
Description
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...[Show more]
dc.contributor.author | Liu, Xin | |
---|---|---|
dc.contributor.author | Dobbie, Michael S | |
dc.contributor.author | Tunningley, Robert | |
dc.contributor.author | Whittle, Belinda | |
dc.contributor.author | Zhang, Yafei | |
dc.contributor.author | Ittner, Lars M | |
dc.contributor.author | Gotz, Jurgen | |
dc.date.accessioned | 2015-12-10T22:25:31Z | |
dc.identifier.issn | 1110-7243 | |
dc.identifier.uri | http://hdl.handle.net/1885/53520 | |
dc.description.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. | |
dc.publisher | Hindawi Publishing Corporation | |
dc.rights | Author/s retain copyright | |
dc.source | Journal of Biomedicine and Biotechnology | |
dc.subject | Keywords: gamma glutamyltransferase; hexokinase; myelin protein; phosphoprotein phosphatase 2A; SUMO 1 protein; T box transcription factor; tau protein; Kcnq1 protein, mouse; myelin protein; potassium channel KCNQ1; tau protein; Alzheimer disease; article; body wei | |
dc.title | ENU mutagenesis screen to establish motor phenotypes in wild-type mice and modifiers of a pre-existing motor phenotype in tau mutant mice | |
dc.type | Journal article | |
local.description.notes | Imported from ARIES | |
local.identifier.citationvolume | 2011 | |
dc.date.issued | 2011 | |
local.identifier.absfor | 110701 - Allergy | |
local.identifier.ariespublication | f5625xPUB276 | |
local.type.status | Published Version | |
local.contributor.affiliation | Liu, Xin, Deakin University | |
local.contributor.affiliation | Dobbie, Michael, College of Medicine, Biology and Environment, ANU | |
local.contributor.affiliation | Tunningley, Robert, College of Medicine, Biology and Environment, ANU | |
local.contributor.affiliation | Whittle, Belinda, College of Medicine, Biology and Environment, ANU | |
local.contributor.affiliation | Zhang, Yafei, College of Medicine, Biology and Environment, ANU | |
local.contributor.affiliation | Ittner, Lars M, University of Sydney | |
local.contributor.affiliation | Gotz, Jurgen, University of Sydney | |
local.bibliographicCitation.startpage | 11 | |
local.identifier.doi | 10.1155/2011/130947 | |
dc.date.updated | 2016-02-24T09:02:16Z | |
local.identifier.scopusID | 2-s2.0-84855554028 | |
local.identifier.thomsonID | 000298675600001 | |
dcterms.accessRights | Open Access | |
Collections | ANU Research Publications |
Download
File | Description | Size | Format | Image |
---|---|---|---|---|
01_Liu_ENU_mutagenesis_screen_to_2011.pdf | 558.93 kB | Adobe PDF |
Items in Open Research are protected by copyright, with all rights reserved, unless otherwise indicated.
Updated: 17 November 2022/ Responsible Officer: University Librarian/ Page Contact: Library Systems & Web Coordinator