Identification of a Novel ENU-Induced Mutation in Mouse Tbx1 Linked to Human DiGeorge Syndrome
Joint Authors
Chen, Jiaofeng
Zhang, Xue
Li, Jie
Song, Chenmeng
Jia, Yichang
Xiong, Wei
Source
Issue
Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-10, 10 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-12-26
Country of Publication
Egypt
No. of Pages
10
Main Subjects
Abstract EN
The patients with DiGeorge syndrome (DGS), caused by deletion containing dozens of genes in chromosome 22, often carry cardiovascular problem and hearing loss associated with chronic otitis media.
Inside the deletion region, a transcription factor TBX1 was highly suspected.
Furthermore, similar DGS phenotypes were found in the Tbx1 heterozygous knockout mice.
Using ENU-induced mutagenesis and G1 dominant screening strategy, here we identified a nonsynonymous mutation p.W118R in T-box of TBX1, the DNA binding domain for transcription activity.
The mutant mice showed deficiency of inner ear functions, including head tossing and circling, plus increased hearing threshold determined by audiometry.
Therefore, our result further confirms the pathogenic basis of Tbx1 in DGS, points out the crucial role of DNA binding activity of TBX1 for the ear function, and provides additional animal model for studying the DGS disease mechanisms.
American Psychological Association (APA)
Chen, Jiaofeng& Zhang, Xue& Li, Jie& Song, Chenmeng& Jia, Yichang& Xiong, Wei. 2016. Identification of a Novel ENU-Induced Mutation in Mouse Tbx1 Linked to Human DiGeorge Syndrome. Neural Plasticity،Vol. 2016, no. 2016, pp.1-10.
https://search.emarefa.net/detail/BIM-1113198
Modern Language Association (MLA)
Chen, Jiaofeng…[et al.]. Identification of a Novel ENU-Induced Mutation in Mouse Tbx1 Linked to Human DiGeorge Syndrome. Neural Plasticity No. 2016 (2016), pp.1-10.
https://search.emarefa.net/detail/BIM-1113198
American Medical Association (AMA)
Chen, Jiaofeng& Zhang, Xue& Li, Jie& Song, Chenmeng& Jia, Yichang& Xiong, Wei. Identification of a Novel ENU-Induced Mutation in Mouse Tbx1 Linked to Human DiGeorge Syndrome. Neural Plasticity. 2016. Vol. 2016, no. 2016, pp.1-10.
https://search.emarefa.net/detail/BIM-1113198
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1113198