• 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

C57BL/6J 和 C57BL/6N 小鼠品系的表型和基因组比较分析。

A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains.

出版信息

Genome Biol. 2013 Jul 31;14(7):R82. doi: 10.1186/gb-2013-14-7-r82.

DOI:10.1186/gb-2013-14-7-r82
PMID:23902802
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4053787/
Abstract

BACKGROUND

The mouse inbred line C57BL/6J is widely used in mouse genetics and its genome has been incorporated into many genetic reference populations. More recently large initiatives such as the International Knockout Mouse Consortium (IKMC) are using the C57BL/6N mouse strain to generate null alleles for all mouse genes. Hence both strains are now widely used in mouse genetics studies. Here we perform a comprehensive genomic and phenotypic analysis of the two strains to identify differences that may influence their underlying genetic mechanisms.

RESULTS

We undertake genome sequence comparisons of C57BL/6J and C57BL/6N to identify SNPs, indels and structural variants, with a focus on identifying all coding variants. We annotate 34 SNPs and 2 indels that distinguish C57BL/6J and C57BL/6N coding sequences, as well as 15 structural variants that overlap a gene. In parallel we assess the comparative phenotypes of the two inbred lines utilizing the EMPReSSslim phenotyping pipeline, a broad based assessment encompassing diverse biological systems. We perform additional secondary phenotyping assessments to explore other phenotype domains and to elaborate phenotype differences identified in the primary assessment. We uncover significant phenotypic differences between the two lines, replicated across multiple centers, in a number of physiological, biochemical and behavioral systems.

CONCLUSIONS

Comparison of C57BL/6J and C57BL/6N demonstrates a range of phenotypic differences that have the potential to impact upon penetrance and expressivity of mutational effects in these strains. Moreover, the sequence variants we identify provide a set of candidate genes for the phenotypic differences observed between the two strains.

摘要

背景

C57BL/6J 近交系小鼠广泛应用于小鼠遗传学研究，其基因组已被纳入许多遗传参考群体。最近，国际基因敲除小鼠联盟（IKMC）等大型计划正在使用 C57BL/6N 小鼠品系生成所有小鼠基因的缺失等位基因。因此，这两个品系现在都广泛用于小鼠遗传学研究。在这里，我们对这两个品系进行了全面的基因组和表型分析，以确定可能影响其潜在遗传机制的差异。

结果

我们对 C57BL/6J 和 C57BL/6N 进行了基因组序列比较，以鉴定 SNP、indels 和结构变异，重点是鉴定所有编码变异。我们注释了 34 个区分 C57BL/6J 和 C57BL/6N 编码序列的 SNP 和 2 个 indels，以及 15 个重叠基因的结构变异。同时，我们利用 EMPReSSslim 表型分析管道评估了这两个近交系的比较表型，这是一个广泛的评估，涵盖了多种生物系统。我们进行了额外的二次表型评估，以探索其他表型领域，并详细说明主要评估中发现的表型差异。我们发现这两个品系之间存在许多生理、生化和行为系统的显著表型差异，这些差异在多个中心得到了复制。

结论

C57BL/6J 和 C57BL/6N 的比较表明存在一系列表型差异，这些差异有可能影响这两个品系中突变效应的外显率和表现度。此外，我们鉴定的序列变异为这两个品系之间观察到的表型差异提供了一组候选基因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d271/4053787/a4370264eaa2/gb-2013-14-7-r82-8.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d271/4053787/b9216c723c76/gb-2013-14-7-r82-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d271/4053787/d9f946e2fb17/gb-2013-14-7-r82-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d271/4053787/f15954e4fbc1/gb-2013-14-7-r82-3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d271/4053787/2d2ff75f7ad2/gb-2013-14-7-r82-4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d271/4053787/1cfd1cd739ff/gb-2013-14-7-r82-5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d271/4053787/4399974da15d/gb-2013-14-7-r82-6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d271/4053787/9c6d3af4b34f/gb-2013-14-7-r82-7.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d271/4053787/a4370264eaa2/gb-2013-14-7-r82-8.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d271/4053787/b9216c723c76/gb-2013-14-7-r82-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d271/4053787/d9f946e2fb17/gb-2013-14-7-r82-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d271/4053787/f15954e4fbc1/gb-2013-14-7-r82-3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d271/4053787/2d2ff75f7ad2/gb-2013-14-7-r82-4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d271/4053787/1cfd1cd739ff/gb-2013-14-7-r82-5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d271/4053787/4399974da15d/gb-2013-14-7-r82-6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d271/4053787/9c6d3af4b34f/gb-2013-14-7-r82-7.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d271/4053787/a4370264eaa2/gb-2013-14-7-r82-8.jpg

相似文献

1
A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains.C57BL/6J 和 C57BL/6N 小鼠品系的表型和基因组比较分析。
Genome Biol. 2013 Jul 31;14(7):R82. doi: 10.1186/gb-2013-14-7-r82.
2
Development of SNP markers for C57BL/6N-derived mouse inbred strains.用于C57BL/6N衍生的小鼠近交系的单核苷酸多态性（SNP）标记的开发。
Exp Anim. 2015;64(1):91-100. doi: 10.1538/expanim.14-0061. Epub 2014 Oct 23.
3
Deep genome sequencing and variation analysis of 13 inbred mouse strains defines candidate phenotypic alleles, private variation and homozygous truncating mutations.对13个近交系小鼠品系进行深度基因组测序和变异分析，确定了候选表型等位基因、私有变异和纯合截短突变。
Genome Biol. 2016 Aug 1;17(1):167. doi: 10.1186/s13059-016-1024-y.
4
The Rd8 mutation of the Crb1 gene is present in vendor lines of C57BL/6N mice and embryonic stem cells, and confounds ocular induced mutant phenotypes.Crb1 基因的 Rd8 突变存在于 C57BL/6N 小鼠和胚胎干细胞的供应商品系中，并混淆了眼部诱导突变表型。
Invest Ophthalmol Vis Sci. 2012 May 17;53(6):2921-7. doi: 10.1167/iovs.12-9662. Print 2012.
5
The Genome of C57BL/6J "Eve", the Mother of the Laboratory Mouse Genome Reference Strain.C57BL/6J“Eve”基因组，实验鼠基因组参考株的“母亲”。
G3 (Bethesda). 2019 Jun 5;9(6):1795-1805. doi: 10.1534/g3.119.400071.
6
Genetic background effects on age-related hearing loss associated with Cdh23 variants in mice.遗传背景对与 Cdh23 变异相关的小鼠年龄相关性听力损失的影响。
Hear Res. 2012 Jan;283(1-2):80-8. doi: 10.1016/j.heares.2011.11.007. Epub 2011 Nov 22.
7
Overview of inactivating mutations in the protein-coding genome of the mouse reference strain C57BL/6J.小鼠参考品系 C57BL/6J 蛋白编码基因组中失活突变概述。
JCI Insight. 2018 Jul 12;3(13):121758. doi: 10.1172/jci.insight.121758.
8
C57BL/6J and C57BL/6N mice exhibit different neuro-behaviors and sensitivity to midazolam- and propofol-induced anesthesia.C57BL/6J 小鼠和 C57BL/6N 小鼠表现出不同的神经行为和对咪达唑仑及丙泊酚诱导麻醉的敏感性。
Physiol Behav. 2023 May 15;264:114146. doi: 10.1016/j.physbeh.2023.114146. Epub 2023 Mar 6.
9
Attention to Background Strain Is Essential for Metabolic Research: C57BL/6 and the International Knockout Mouse Consortium.关注背景品系对代谢研究至关重要：C57BL/6与国际基因敲除小鼠联盟
Diabetes. 2016 Jan;65(1):25-33. doi: 10.2337/db15-0982.
10
A comparative analysis of C57BL/6J and 6N substrains; chemokine/cytokine expression and susceptibility to laser-induced choroidal neovascularization.C57BL/6J和6N亚系的比较分析；趋化因子/细胞因子表达及对激光诱导脉络膜新生血管形成的易感性
Exp Eye Res. 2014 Dec;129:18-23. doi: 10.1016/j.exer.2014.10.005. Epub 2014 Oct 13.

引用本文的文献

1
Undercarboxylated OCN Inhibits Chondrocyte Hypertrophy and Osteoarthritis Development through GPRC6A/HIF-1α Cascade.羧化不足的骨钙素通过GPRC6A/HIF-1α级联反应抑制软骨细胞肥大和骨关节炎发展。
Int J Biol Sci. 2025 Jun 23;21(10):4353-4373. doi: 10.7150/ijbs.105560. eCollection 2025.
2
Dietary Fenbendazole Treatment Does Not Impair Skilled Forelimb Motor Function in C57BL/6J Mice.饮食中使用芬苯达唑治疗不会损害C57BL/6J小鼠的熟练前肢运动功能。
J Am Assoc Lab Anim Sci. 2025 May 1;64(4):1-7. doi: 10.30802/AALAS-JAALAS-24-152.
3
Tibia length is an appropriate standard for evaluating hypertrophy in streptozotocin-induced diabetic complications.

本文引用的文献

1
Predicting the functional effect of amino acid substitutions and indels.预测氨基酸替换和缺失的功能效应。
PLoS One. 2012;7(10):e46688. doi: 10.1371/journal.pone.0046688. Epub 2012 Oct 8.
2
Towards an encyclopaedia of mammalian gene function: the International Mouse Phenotyping Consortium.迈向哺乳动物基因功能百科全书：国际小鼠表型分析联盟。
Dis Model Mech. 2012 May;5(3):289-92. doi: 10.1242/dmm.009878.
3
The Rd8 mutation of the Crb1 gene is present in vendor lines of C57BL/6N mice and embryonic stem cells, and confounds ocular induced mutant phenotypes.
胫骨长度是评估链脲佐菌素诱导的糖尿病并发症中肥大的合适标准。
Naunyn Schmiedebergs Arch Pharmacol. 2025 Jul 17. doi: 10.1007/s00210-025-04413-3.
4
12/15-lipoxygenases mediate toll-like receptor 4-dependent nociplastic pain hypersensitivity in female mice.12/15-脂氧合酶介导雌性小鼠中Toll样受体4依赖性的神经病理性疼痛超敏反应。
Pain. 2025 Jul 10. doi: 10.1097/j.pain.0000000000003711.
5
Adipocyte CLDN5 promotes thermogenesis and energy expenditure through regulation of IL10 expression.脂肪细胞CLDN5通过调节IL10表达促进产热和能量消耗。
Nat Commun. 2025 Jul 4;16(1):6151. doi: 10.1038/s41467-025-61371-3.
6
Differences of the 6N and 6J Substrains of C57BL/6 Mice in the Development of Experimental Autoimmune Encephalomyelitis.C57BL/6小鼠6N和6J亚系在实验性自身免疫性脑脊髓炎发展过程中的差异
MedComm (2020). 2025 Jul 2;6(7):e70228. doi: 10.1002/mco2.70228. eCollection 2025 Jul.
7
Slow-Timescale Regulation of Dopamine Release and Mating Drive Over Days.多巴胺释放和求偶驱动力在数天内的慢时间尺度调节。
bioRxiv. 2025 Jun 2:2025.05.29.656898. doi: 10.1101/2025.05.29.656898.
8
The Effect of Tff3 Deficiency on the Liver of Mice Exposed to a High-Fat Diet.Tff3基因缺失对高脂饮食小鼠肝脏的影响。
Biomedicines. 2025 Apr 23;13(5):1024. doi: 10.3390/biomedicines13051024.
9
Expanding the landscape of aging via orbitrap astral mass spectrometry and tandem mass tag integration.通过轨道阱星体质谱法和串联质量标签整合拓展衰老研究领域
Nat Commun. 2025 May 22;16(1):4753. doi: 10.1038/s41467-025-60022-x.
10
Adipocyte-derived shed Syndecan-4 suppresses lipolysis contributing to impaired adipose tissue browning and adaptive thermogenesis.脂肪细胞衍生的脱落型Syndecan-4抑制脂肪分解，导致脂肪组织褐变受损和适应性产热障碍。
Mol Metab. 2025 Jun;96:102133. doi: 10.1016/j.molmet.2025.102133. Epub 2025 Apr 1.
Crb1 基因的 Rd8 突变存在于 C57BL/6N 小鼠和胚胎干细胞的供应商品系中，并混淆了眼部诱导突变表型。
Invest Ophthalmol Vis Sci. 2012 May 17;53(6):2921-7. doi: 10.1167/iovs.12-9662. Print 2012.
4
The fine-scale architecture of structural variants in 17 mouse genomes.17 种小鼠基因组中结构变异的精细结构。
Genome Biol. 2012;13(3):R18. doi: 10.1186/gb-2012-13-3-r18.
5
Brain-gut-microbe communication in health and disease.健康与疾病中的脑-肠-微生物通讯
Front Physiol. 2011 Dec 7;2:94. doi: 10.3389/fphys.2011.00094. eCollection 2011.
6
The Mouse Genome Database (MGD): comprehensive resource for genetics and genomics of the laboratory mouse.小鼠基因组数据库 (MGD)：实验室小鼠遗传学和基因组学的综合资源。
Nucleic Acids Res. 2012 Jan;40(Database issue):D881-6. doi: 10.1093/nar/gkr974. Epub 2011 Nov 10.
7
Mouse genomic variation and its effect on phenotypes and gene regulation.小鼠基因组变异及其对表型和基因调控的影响。
Nature. 2011 Sep 14;477(7364):289-94. doi: 10.1038/nature10413.
8
In-depth annotation of SNPs arising from resequencing projects using NGS-SNP.使用 NGS-SNP 对重测序项目产生的 SNPs 进行深度注释。
Bioinformatics. 2011 Aug 15;27(16):2300-1. doi: 10.1093/bioinformatics/btr372. Epub 2011 Jun 22.
9
A conditional knockout resource for the genome-wide study of mouse gene function.一个用于研究小鼠基因功能的全基因组条件性基因敲除资源。
Nature. 2011 Jun 15;474(7351):337-42. doi: 10.1038/nature10163.
10
A framework for variation discovery and genotyping using next-generation DNA sequencing data.利用下一代 DNA 测序数据进行变异发现和基因分型的框架。
Nat Genet. 2011 May;43(5):491-8. doi: 10.1038/ng.806. Epub 2011 Apr 10.