caa a22 4500 44529843X CHVBK 20180317142549.0 cr unu---uuuuu 170323e20101201xx s 000 0 eng 10.1007/s12013-010-9097-9 doi (NATIONALLICENCE)springer-10.1007/s12013-010-9097-9 Identification of a Novel Mouse Brachyury ( T ) Allele Causing a Short Tail Mutation in Mice [Elektronische Daten] [Baojin Wu, Yixiang Shao, Bing Chen, Chun Liu, Zhengfeng Xue, Peilin Wu, Houda Li] Mutations in T-box genes are associated with numerous disease states in humans. The objective of this paper was to characterize the T shao, a specific T-box mutation, in mice. T shao, a short-tailed mutant mouse strain in a B6 background, was obtained by ethylnitrosourea mutagenesis. Microsatellite genomic scans mapped the location of the mutation. RT-PCR was used to amplify the identified region and the product was sequenced. DNA of the region was sequenced and scanned for mutations. Tails of T shao mice were mostly curly with tail length ranging from less than 1cm (tail bud) to half of the normal length. T shao presented single dominance gene inheritance, and homozygous mutant mice died approximately at E10. Scans of the F2 generation mapped the mutant gene to chromosome 17, near D17Mit143. The Brachyury (T) gene was identified as a potential candidate gene in this location. To confirm this, RT-PCR was performed on RNA from intercrossed 8.5-day embryos, and products were sequenced. A 67-nucleotide deletion in exon 2 of the mutant T gene was identified. Further sequencing of the genomic DNA from this region identified a T to A transversion at the 67th nucleotide of exon 2. The T shao mutation is a result of a deletion in exon 2 causing the early termination and loss of function of protein encoded by the T gene, manifesting as a short tail phenotype. Springer Science+Business Media, LLC, 2010 Short-tailed mouse nationallicence Gene mapping nationallicence Brachyury ( T ) gene nationallicence Microsatellites nationallicence Wu Baojin Laboratory of Experimental Animal Science, Hangzhou Normal University, 310036, Hangzhou, China aut Shao Yixiang Laboratory Animal Center of Nantong University, 226001, Nantong, China aut Chen Bing Center for Comparative Medicine, Yangzhou University, 225009, Yangzhou, China aut Liu Chun Laboratory Animal Center of Nantong University, 226001, Nantong, China aut Xue Zhengfeng Center for Comparative Medicine, Yangzhou University, 225009, Yangzhou, China aut Wu Peilin Laboratory of Experimental Animal Science, Hangzhou Normal University, 310036, Hangzhou, China aut Li Houda Center for Comparative Medicine, Yangzhou University, 225009, Yangzhou, China aut Cell Biochemistry and Biophysics Humana Press Inc 58/3(2010-12-01), 129-135 1085-9195 58:3<129 2010 58 12013 https://doi.org/10.1007/s12013-010-9097-9 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s12013-010-9097-9 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Wu Baojin Laboratory of Experimental Animal Science, Hangzhou Normal University, 310036, Hangzhou, China aut NATIONALLICENCE 700 1- Shao Yixiang Laboratory Animal Center of Nantong University, 226001, Nantong, China aut NATIONALLICENCE 700 1- Chen Bing Center for Comparative Medicine, Yangzhou University, 225009, Yangzhou, China aut NATIONALLICENCE 700 1- Liu Chun Laboratory Animal Center of Nantong University, 226001, Nantong, China aut NATIONALLICENCE 700 1- Xue Zhengfeng Center for Comparative Medicine, Yangzhou University, 225009, Yangzhou, China aut NATIONALLICENCE 700 1- Wu Peilin Laboratory of Experimental Animal Science, Hangzhou Normal University, 310036, Hangzhou, China aut NATIONALLICENCE 700 1- Li Houda Center for Comparative Medicine, Yangzhou University, 225009, Yangzhou, China aut NATIONALLICENCE 773 0- Cell Biochemistry and Biophysics Humana Press Inc 58/3(2010-12-01), 129-135 1085-9195 58:3<129 2010 58 12013 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer