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C57BL/6J是使用最广泛的近交小鼠品系。它通常作为常规品系使用，也被用于构建携带自发和诱导突变的同源系小鼠的背景品系。虽然此品系对多种肿瘤耐受，但它被普遍接受作为表达大部分突变基因的遗传背景。C57BL/6J 小鼠被用于多种研究领域，包括心血管生物学、发育生物学、糖尿病和肥胖、遗传学、免疫学、神经生物学和感觉神经研究。C57BL/6J 小鼠也常被用于转基因小鼠的构建。总体上，C57BL/6J 小鼠繁殖良好，寿命长，对肿瘤易感性低。与 BALB/C 和 DBA/2J 小鼠相比，C57BL/6J 小鼠的原始造血干细胞表现出明显的衰老延迟。这是一个显性性状。其他特征包括：1) 对膳食诱导的肥胖、II 型糖尿病和动脉硬化症高度易感；2) 小眼畸形和其他相关眼部异常发病率高；3) 对听源性惊厥有抗性；4) 骨密度低；5) 遗传性脑积水（早期报告显示出现概率为 1-4%）；6) 门体分流（约 5%）；7) 与过度理毛相关的脱毛；8) 酒精和吗啡偏好；9) 迟发性听力丧失；10) 脑积水和咬合不正发病率增加。
喂食高脂饲料的 C57BL/6J小鼠出现肥胖、轻度至中度高血糖和高胰岛素血症（见 JAX® 饮食诱导的肥胖 (DIO) 模型）。C57BL/6J 小鼠喂食致动脉粥样硬化饲料（1.25% 胆固醇、0.5% 胆酸和 15% 脂肪）14 周，出现 4500 至 8000 μm2 动脉粥样硬化主动脉病变/主动脉横截面病变。不同近交品系中主动脉病变的多样性导致了 8 个影响动脉硬化症的基因 Ath1 至 Ath8 的发现。由于 Cdh23Ahl 等位基因的存在，C57BL/6J 小鼠会随着外毛细胞和内毛细胞的破坏发展出严重且进行性的听力丧失。Cheers 和 McKenzie 发现 C57BL/6J 小鼠对李氏杆菌病耐受。1984 年之前的某个时间，C57BL/6J 小鼠的烟酰胺核苷酸转移酶 (Nnt) 外显子 7-11 发生了自然缺失。这种缺失导致 NNT 蛋白的缺失，与葡萄糖内稳态控制受损和胰岛素分泌减少相关。此突变不存在于 C57BL/6JEi、C57BL/6N、C57BL/6NJ、C57BL/6ByJ、C57BL/10J、C57L/J 或 C58/J 小鼠中 (Toye AA, et al, Diabetologia, 2005)。由于品系 C57BL/6JEi 是在 1976 年从 C57BL/6J 中分离出来的，Nnt 缺失应发生在 1976 年至 1984 年之间。由于存在 n-Tr20m1J 点突变（该点突变也存在于 C57BL/6JEiJ 小鼠中，但在 C57BL/6NJ 或 C57BL/6ByJ 小鼠中不存在），与其他近交品系相比，C57BL/6J 小鼠的小脑提取物在 AGA 密码子处的核糖体停顿增加 (Ishimura et al., 2014)。此外，20 世纪 70 年代早期至 20 世纪 90 年代之间的某个时间发生在 Gabra2 中的内含子点缺失导致大脑中该氯离子通道组分的转录和蛋白表达降低。
C57BL/6J 是国际合作进行第一个高质量小鼠基因组草图序列测序的 DNA 来源。已有 5 个可区分 C57BL/6J 与 C57BL/6ByJ 和 C57BL/6NJ 品系的 SNP 被鉴定。C57BL/6ByJ 和 C57BL/6NJ 分型如下：08-015199792-M (rs3709624) 是 C；11-004367508-M (rs3659787) 是 A；13-041017317-M (rs3722313) 是 C；15-057561875-M (rs3702158) 是 G；19-049914266-M (rs3724876) 是 T。C57BL/6J 分型如下：08-015199792-M (rs3709624) 是 T；11-004367508-M (rs3659787) 是 G；13-041017317-M (rs3722313) 是 T；15-057561875-M (rs3702158) 是 A；19-049914266-M (rs3724876) 是 G（Petkov 和 Wiles, 2004.）其他人随后鉴定了 C57BL/6 的亚系之间的更多 SNP 差异（Mekada et al., 2009、Zurita et al., 2010）。
Expression of the Neuronal tRNA n-Tr20 Regulates Synaptic Transmission and Seizure Susceptibility.
Kapur M , et al.
Attention to Background Strain Is Essential for Metabolic Research: C57BL/6 and the International Knockout Mouse Consortium.
Fontaine DA , et al.
A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains.
Simon MM , et al.
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精选参考文献当使用该小鼠品系发表文献时，请引用原始文献，并在材料方法中提供该品系的品系货号：JAX stock#000664
2020Expression of the Neuronal tRNA n-Tr20 Regulates Synaptic Transmission and Seizure Susceptibility.
Kapur M , et al.
2016Attention to Background Strain Is Essential for Metabolic Research: C57BL/6 and the International Knockout Mouse Consortium.
Fontaine DA , et al.
2013A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains.
Simon MM , et al.
2008Genetic background determines metabolic phenotypes in the mouse.
Champy MF , et al.
2005A genetic and physiological study of impaired glucose homeostasis control in C57BL/6J mice.
Toye AA , et al.
2004Development of a SNP genotyping panel for genetic monitoring of the laboratory mouse.
Petkov PM , et al.
2002Initial sequencing and comparative analysis of the mouse genome.
Waterston RH , et al.
2001Genetic loci determining bone density in mice with diet-induced atherosclerosis.
Drake TA , et al.
1998Differential effects of fat and sucrose on body composition in A/J and C57BL/6 mice.
Black BL , et al.
1991Effects of atherogenic diet consumption on lipoproteins in mouse strains C57BL/6 and C3H.
Ishida BY , et al.
1985Variation in susceptibility to atherosclerosis among inbred strains of mice.
Paigen B , et al. -
其他参考文献
2016Unstable FoxP3+ T regulatory cells in NZW mice.
Depis F , et al.
2016Pathophysiological mechanisms underlying phenotypic differences in pulmonary radioresponse.
Jackson IL , et al.
2016Clinical Chemistry Reference Intervals for C57BL/6J, C57BL/6N, and C3HeB/FeJ Mice (Mus musculus).
Otto GP , et al.
2016Nlrp12 mutation causes C57BL/6J strain-specific defect in neutrophil recruitment.
Ulland TK , et al.
2014RNA function. Ribosome stalling induced by mutation of a CNS-specific tRNA causes neurodegeneration.
Ishimura R , et al.
2013C57BL/6N mutation in Cytoplasmic FMRP interacting protein 2 regulates cocaine response.
Kumar V , et al.
2011Genetic polymorphisms among C57BL/6 mouse inbred strains.
Zurita E , et al.
2009Genetic differences among C57BL/6 substrains.
Mekada K , et al.
2009Comparison of allergic lung disease in three mouse strains after systemic or mucosal sensitization with ovalbumin antigen.
Zhu W , et al.
2008Oxidative damage-induced inflammation initiates age-related macular degeneration.
Hollyfield JG , et al.
2007Mouse behavioral tasks relevant to autism: phenotypes of 10 inbred strains.
Moy SS , et al.
2006Deletion of Nicotinamide Nucleotide Transhydrogenase: A New Quantitive Trait Locus Accounting for Glucose Intolerance in C57BL/6J Mice.
Freeman HC , et al.
2004An efficient SNP system for mouse genome scanning and elucidating strain relationships.
Petkov PM , et al.
2003Mouse strain differences in kainic acid sensitivity, seizure behavior, mortality, and hippocampal pathology.
McKhann GM 2nd , et al.
2003Variation in type 2 diabetes--related traits in mouse strains susceptible to diet-induced obesity.
Rossmeisl M , et al.
2003Allergen-induced airway disease is mouse strain dependent.
Whitehead GS , et al.
2000Age-related morphometric changes in the pineal gland. A comparative study between C57BL/6J and CBA mice.
Cernuda-Cernuda R , et al.
2000Genetic regulation of primitive hematopoietic stem cell senescence.
Chen J , et al.
2000Quantitative trait loci controlling allergen-induced airway hyperresponsiveness in inbred mice.
Ewart SL , et al.
2000Differential maintenance and frequency-dependent tuning of LTP at hippocampal synapses of specific strains of inbred mice.
Nguyen PV , et al.
2000Genetic heterogeneity of angiogenesis in mice.
Rohan RM , et al.
2000The Dalila effect: C57BL6 mice barber whiskers by plucking.
Sarna JR , et al.
2000Macronutrient diet selection in thirteen mouse strains.
Smith BK , et al.
1999Quantitative trait loci for bone density in C57BL/6J and CAST/EiJ inbred mice.
Beamer WG , et al.
1998Comparison of acute endotoxin-induced lesions in A/J and C57BL/6J mice.
O'Malley J , et al.
1998Reversal of diet-induced obesity and diabetes in C57BL/6J mice.
Parekh PI , et al.
1998Ltx1, a mouse locus that influences the susceptibility of macrophages to cytolysis caused by intoxication with Bacillus anthracis lethal factor, maps to chromosome 11.
Roberts JE , et al.
1997Distortion product otoacoustic emissions in the C57BL/6J mouse model of age-related hearing loss.
Parham K , et al.
1996Genetic variability in adult bone density among inbred strains of mice.
Beamer WG , et al.
1996Genetics of age-related hearing loss in mice. III. Susceptibility of inbred and F1 hybrid strains to noise-induced hearing loss.
Erway LC , et al.
1995Hyper- and hypo-responsiveness to dietary fat and cholesterol among inbred mice: searching for level and variability genes.
Kirk EA , et al.
1995Genetics of responsiveness to high-fat and high- cholesterol diets in the mouse.
Paigen B , et al.
1994Molecular analysis of reverse mutations from nonagouti (a) to black-and-tan (a(t)) and white-bellied agouti (Aw) reveals alternative forms of agouti transcripts.
Bultman SJ , et al.
1994Microphthalmia and associated abnormalities in inbred black mice.
Smith RS , et al.
1994Differences in dorsal and ventral pigmentation result from regional expression of the mouse agouti gene.
Vrieling H , et al.
1993Cloning of the mouse agouti gene predicts a secreted protein ubiquitously expressed in mice carrying the lethal yellow mutation.
Miller MW , et al.
1993Atherosclerosis and plasma and liver lipids in nine inbred strains of mice.
Nishina PM , et al.
1992Molecular characterization of the mouse agouti locus.
Bultman SJ , et al.
1992Dietary obesity in nine inbred mouse strains.
West DB , et al.
1990Genetic heterogeneity of plasma lipoproteins in the mouse: control of low density lipoprotein particle sizes by genetic factors.
Jiao S , et al.
1990Synthetic low and high fat diets for the study of atherosclerosis in the mouse.
Nishina PM , et al.
1990Atherosclerosis susceptibility differences among progenitors of recombinant inbred strains of mice.
Paigen B , et al.
1986Differences in susceptibility of inbred mice to Bacillus anthracis.
Welkos SL , et al.
1982Evidence for genetic control of microwave-induced augmentation of complement receptor-bearing B lymphocytes.
Schlagel CJ , et al.
1972Genetic relationships between inbred strains of mice.
Taylor BA , et al. -
等位基因参考文献
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