| 陈兵,李柯,陈德洋,糜婷,薛整风.2012.ENU诱变获得一种多趾小鼠及其突变基因的鉴定.动物学杂志,47(5):32-40. |
| ENU诱变获得一种多趾小鼠及其突变基因的鉴定 |
| Generation of Polydactylous Mice Using ENU Mutagenesis and Identification of the Mutant Gene |
| 投稿时间：2012-04-18 修订日期：2012-07-04 |
| DOI： |
| 中文关键词: 乙酰基亚硝基脲 多趾突变 阿尔新蓝-茜素红染色 微卫星 Alx4基因 |
| 英文关键词:N-ethyl-N-nitrosourea Polydactyly Alcian blue and alizarin red staining Microsatellite Alx4 gene |
| 基金项目:国家自然科学基金项目(No.31000987),江苏高校优势学科建设工程资助项目 |
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| 中文摘要: |
| 采用化学诱变剂乙酰基亚硝基脲(N-ethyl-N-nitrosourea, ENU)获得一种常染色体显性遗传多趾突变小鼠(Mus musculus),该突变小鼠在后趾内侧(即轴前部)多出一个脚趾,且严重程度不一,部分小鼠双侧后足都有多趾表型。阿尔新蓝-茜素红染色结果表明,多趾突变杂合子小鼠除多趾异常发育外,其余骨骼无明显异常。为定位该突变基因,利用微卫星标记对 (C57BL/6J×DBA/2J) F1代多趾突变小鼠回交C57BL/6J得到的 N2代多趾小鼠进行全基因组扫描,最终将本例多趾突变基因定位于小鼠第2号染色体微卫星D2mit45与D2mit184之间,并初步确定Alx4为该突变候选基因。在此基础上对Alx4进行测序分析,测序结果发现突变小鼠Alx4基因编码区第433位碱基处发生A到T的颠换,导致编码区第145位密码子AAA(编码赖氨酸)变为终止密码子TAA,引起蛋白编码提前终止,是引起多趾表型的原因。 |
| 英文摘要: |
| Inherited dominant polydactylous mice (Mus musculus) was obtained by N-ethyl-N-nitrosourea (ENU) mutagenesis. The mutant mice showed an extra digit on the anterior aspect of one hindlimb that varied in phenotypic severity, and some mice had polydactyly phenotype in both hindlimbs. Alcian blue and alizarin red staining indicated that there was no obvious abnormality of other skeletons in polydactylous heterozygotes except an extra toe in the preaxial of hindlimbs. To determine the position of the mutant gene on the chromosome, microsatellite markers were used to scan the whole genome of the N2 polydactylous mice, which were obtained by back crossbreeding F1 (C57BL/6J ×DBA/2J) with C57BL/6J. Finally, the mutant gene was located between D2mit45 and D2mit184, and Alx4 gene was regarded as the candidate gene of the polydactyly phenotype. Sequence analysis of Alx4 gene for polydactylous heterozygotes revealed an A/T transversion mutation that resulted in an amino acid substitution at position 145 in the protein of a lysine codon (K) by a stop (nonsense) codon. |
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