• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

Omi 是染色体 10 上的隐性突变,是 Ostm1 的一个新等位基因。

Omi, a recessive mutation on chromosome 10, is a novel allele of Ostm1.

机构信息

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.

出版信息

Mamm Genome. 2013 Feb;24(1-2):44-53. doi: 10.1007/s00335-012-9438-7. Epub 2012 Nov 17.

DOI:10.1007/s00335-012-9438-7
PMID:23160729
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3560959/
Abstract

Large-scale N-ethyl-N-nitrosourea (ENU) mutagenesis has provided many rodent models for human disease. Here we describe the initial characterization and mapping of a recessive mutation that leads to degeneration of the incisors, failure of molars to erupt, a grey coat colour, and mild osteopetrosis. We mapped the omi mutation to chromosome 10 between D10Mit214 and D10Mit194. The Ostm1 gene is a likely candidate gene in this region and the grey-lethal allele, Ostm1 ( gl ), and omi mutations fail to complement each other. We show that om/om mice have reduced levels of Ostm1 protein. To date we have not been able to identify the causative mutation. We propose that omi is a novel hypomorphic mutation affecting Ostm1 expression, potentially in a regulatory element.

摘要

大规模的 N-乙基-N-亚硝脲(ENU)诱变产生了许多用于人类疾病研究的啮齿动物模型。在这里,我们描述了一个隐性突变的初步特征和定位,该突变导致切牙退化、磨牙无法萌出、灰色被毛颜色和轻度骨质硬化症。我们将 omi 突变定位在染色体 10 上 D10Mit214 和 D10Mit194 之间。Ostm1 基因是该区域的一个候选基因,灰色致死等位基因 Ostm1 ( gl ) 和 omi 突变不能互补。我们表明 om/om 小鼠 Ostm1 蛋白水平降低。到目前为止,我们还未能确定致病突变。我们提出 omi 是一种影响 Ostm1 表达的新型功能丧失突变,可能在调节元件中。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2691/3560959/d5bf549236d3/335_2012_9438_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2691/3560959/a0d41b644a77/335_2012_9438_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2691/3560959/a4ac93959c26/335_2012_9438_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2691/3560959/ebfd9951a6d5/335_2012_9438_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2691/3560959/415d8421a9d8/335_2012_9438_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2691/3560959/d4ad29e77464/335_2012_9438_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2691/3560959/d5bf549236d3/335_2012_9438_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2691/3560959/a0d41b644a77/335_2012_9438_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2691/3560959/a4ac93959c26/335_2012_9438_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2691/3560959/ebfd9951a6d5/335_2012_9438_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2691/3560959/415d8421a9d8/335_2012_9438_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2691/3560959/d4ad29e77464/335_2012_9438_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2691/3560959/d5bf549236d3/335_2012_9438_Fig6_HTML.jpg

相似文献

1
Omi, a recessive mutation on chromosome 10, is a novel allele of Ostm1.Omi 是染色体 10 上的隐性突变,是 Ostm1 的一个新等位基因。
Mamm Genome. 2013 Feb;24(1-2):44-53. doi: 10.1007/s00335-012-9438-7. Epub 2012 Nov 17.
2
Expression pattern of the V5-Ostm1 protein in bacterial artificial chromosome transgenic mice.V5-Ostm1 蛋白在细菌人工染色体转基因小鼠中的表达模式。
Genesis. 2021 Mar;59(3):e23409. doi: 10.1002/dvg.23409. Epub 2021 Jan 23.
3
Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis.人类恶性婴儿骨硬化症中灰色致死基因OSTM1编码区新突变的鉴定。
Hum Mutat. 2004 May;23(5):471-6. doi: 10.1002/humu.20028.
4
Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement.OSTM1(灰色致死)基因的突变会导致一种特别严重的常染色体隐性遗传性骨质石化症,伴有神经受累。
J Bone Miner Res. 2006 Jul;21(7):1098-105. doi: 10.1359/jbmr.060403.
5
Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human.灰色致死突变在小鼠和人类中诱发严重的恶性常染色体隐性骨硬化症。
Nat Med. 2003 Apr;9(4):399-406. doi: 10.1038/nm842. Epub 2003 Mar 10.
6
Phenotype-based identification of mouse chromosome instability mutants.基于表型的小鼠染色体不稳定突变体鉴定。
Genetics. 2003 Mar;163(3):1031-40. doi: 10.1093/genetics/163.3.1031.
7
An N-ethyl-N-nitrosourea mutagenesis recessive screen identifies two candidate regions for murine cardiomyopathy that map to chromosomes 1 and 15.一项N-乙基-N-亚硝基脲诱变隐性筛选确定了两个与小鼠心肌病相关的候选区域,这些区域定位于1号和15号染色体。
Mamm Genome. 2009 May;20(5):296-304. doi: 10.1007/s00335-009-9184-7. Epub 2009 Apr 23.
8
Identification of novel genetic loci for bone size and mechanosensitivity in an ENU mutant exhibiting decreased bone size.在一个骨尺寸减小的ENU突变体中鉴定骨大小和机械敏感性的新基因位点。
J Bone Miner Res. 2005 Jun;20(6):1041-50. doi: 10.1359/JBMR.041239. Epub 2004 Dec 27.
9
OSTM1 bone defect reveals an intercellular hematopoietic crosstalk.OSTM1骨缺损揭示了一种细胞间造血串扰。
J Biol Chem. 2008 Nov 7;283(45):30522-30. doi: 10.1074/jbc.M805242200. Epub 2008 Sep 11.
10
Ostm1 Bifunctional Roles in Osteoclast Maturation: Insights From a Mouse Model Mimicking a Human OSTM1 Mutation.OSTM1 双重功能在破骨细胞成熟中的作用:模仿人类 OSTM1 突变的小鼠模型的见解。
J Bone Miner Res. 2018 May;33(5):888-898. doi: 10.1002/jbmr.3378. Epub 2018 Feb 14.

引用本文的文献

1
Molecular Mechanisms of Craniofacial and Dental Abnormalities in Osteopetrosis.骨硬化症中颅面和牙齿异常的分子机制。
Int J Mol Sci. 2023 Jun 20;24(12):10412. doi: 10.3390/ijms241210412.
2
Ostm1 from Mouse to Human: Insights into Osteoclast Maturation.Ostm1 从鼠到人:破骨细胞成熟的见解。
Int J Mol Sci. 2020 Aug 5;21(16):5600. doi: 10.3390/ijms21165600.

本文引用的文献

1
Long-term survival in infantile malignant autosomal recessive osteopetrosis secondary to homozygous p.Arg526Gln mutation in CLCN7.婴儿恶性常染色体隐性骨硬化症的长期生存,继发于 CLCN7 基因中纯合 p.Arg526Gln 突变。
Am J Med Genet A. 2012 Apr;158A(4):909-16. doi: 10.1002/ajmg.a.35264. Epub 2012 Mar 14.
2
Exome sequencing identifies a missense mutation in Isl1 associated with low penetrance otitis media in dearisch mice.外显子组测序鉴定出与 dearisch 小鼠低外显率中耳炎相关的 Isl1 错义突变。
Genome Biol. 2011 Sep 21;12(9):R90. doi: 10.1186/gb-2011-12-9-r90.
3
A missense mutation in Fgfr1 causes ear and skull defects in hush puppy mice.
Fgfr1 中的错义突变导致哈巴狗鼠的耳朵和颅骨缺陷。
Mamm Genome. 2011 Jun;22(5-6):290-305. doi: 10.1007/s00335-011-9324-8. Epub 2011 Apr 10.
4
Mouse Mutagenesis Using N-Ethyl-N-Nitrosourea (ENU).使用N-乙基-N-亚硝基脲(ENU)进行小鼠诱变。
CSH Protoc. 2008 Apr 1;2008:pdb.prot4985. doi: 10.1101/pdb.prot4985.
5
The V-ATPase a3 subunit mutation R740S is dominant negative and results in osteopetrosis in mice.V-ATPase a3 亚基突变 R740S 是显性负性的,导致小鼠发生骨质硬化症。
J Bone Miner Res. 2011 Jul;26(7):1484-93. doi: 10.1002/jbmr.355.
6
Catweasel mice: a novel role for Six1 in sensory patch development and a model for branchio-oto-renal syndrome.猫鼬鼠:Six1在感觉斑发育中的新作用及鳃-耳-肾综合征模型
Dev Biol. 2009 Apr 15;328(2):285-96. doi: 10.1016/j.ydbio.2009.01.030. Epub 2009 Feb 2.
7
An ENU-induced mutation in the Ankrd11 gene results in an osteopenia-like phenotype in the mouse mutant Yoda.在小鼠突变体尤达中,安卡拉蛋白11(Ankrd11)基因的ENU诱导突变导致类似骨质减少的表型。
Physiol Genomics. 2008 Feb 19;32(3):311-21. doi: 10.1152/physiolgenomics.00116.2007. Epub 2007 Nov 6.
8
The expression of Clcn7 and Ostm1 in osteoclasts is coregulated by microphthalmia transcription factor.
J Biol Chem. 2007 Jan 19;282(3):1891-904. doi: 10.1074/jbc.M608572200. Epub 2006 Nov 14.
9
Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement.OSTM1(灰色致死)基因的突变会导致一种特别严重的常染色体隐性遗传性骨质石化症,伴有神经受累。
J Bone Miner Res. 2006 Jul;21(7):1098-105. doi: 10.1359/jbmr.060403.
10
Multiple mutations in mouse Chd7 provide models for CHARGE syndrome.小鼠Chd7基因中的多个突变提供了CHARGE综合征模型。
Hum Mol Genet. 2005 Nov 15;14(22):3463-76. doi: 10.1093/hmg/ddi375. Epub 2005 Oct 5.