心肌病

基因敲除

免疫缺陷

视网膜功能障碍和家族性肌萎缩性侧索硬化症（ALS）等。

基因敲除

糖尿病

自发突变

脂代谢相关疾病

1.Fantuzzi G. Adipose tissue, adipokines, and inflammation [J]. J Allergy Clin Immunol, 2005, 115: 911-919. 2. OgnjanovicC, Bryant-Greenwood GD. Pre-B cell colony-enhancing factor, a novel cytokine of human fetal membranes[J]. Am J Obstet Gynecol, 2002, 187(4): 1051-1058.

脂代谢相关疾病

基因敲除，破坏第四外显子

脂代谢相关疾病

CMV全身性启动子启动的Dhcr24转基因小鼠

成骨不全(Osteogenesisimperfecta,OI)是一种由于Ⅰ型胶原形成障碍,导致骨脆性增强为主要症状的 常染色体显性遗传性疾病。临床上主要表现为骨质脆弱、蓝巩膜、耳聋和中等程度的关节畸形等症状。

利用Crispr/cas9技术制备COL1A1点突变大鼠，突变位点为C.T149G。

肿瘤相关

基因敲除 

1Brugarolas J; Chandrasekaran C; Gordon JI; Beach D; Jacks T; Hannon GJ. 1995. Radiation-induced cell cycle arrest compromised by p21 deficiency. Nature 377(6549):552-7. 2Carstens MJ; Krempler A; Triplett AA; Van Lohuizen M; Wagner KU. 2004. Cell cycle arrest and cell death are controlled by p53-dependent and p53-independent mechanisms in Tsg101-deficient cells. J Biol Chem 279(34):35984-94.

血液病

基因敲除小鼠，破坏第三外显子。

1Middleton MK; Zukas AM; Rubinstein T; Jacob M; Zhu P; Zhao L; Blair I; Pure E. 2006. Identification of 12/15-lipoxygenase as a suppressor of myeloproliferative disease. J Exp Med 203(11):2529-40. 2Sun D; Funk CD. 1996. Disruption of 12/15-lipoxygenase expression in peritoneal macrophages. Enhanced utilization of the 5-lipoxygenase pathway and diminished oxidation of low density lipoprotein. J Biol Chem 271(39):24055-62. Additional References

信号转导相关

基因敲除 

1Yang DD; Conze D; Whitmarsh AJ; Barrett T; Davis RJ; Rincon M; Flavell RA. 1998. Differentiation of CD4+ T cells to Th1 cells requires MAP kinase JNK2. Immunity 9(4):575-85. 2Abdelli S; Puyal J; Bielmann C; Buchillier V; Abderrahmani A; Clarke PG; Beckmann JS; Bonny C. 2009. JNK3 is abundant in insulin-secreting cells and protects against cytokine-induced apoptosis. Diabetologia 52(9):1871-80.

信号转导相关

基因敲除 

1Dong C; Yang DD; Wysk M; Whitmarsh AJ; Davis RJ; Flavell RA. 1998. Defective T cell differentiation in the absence of Jnk1. Science 282(5396):2092-5. 2Constant SL; Dong C; Yang DD; Wysk M; Davis RJ; Flavell RA. 2000. JNK1 is required for T cell-mediated immunity against Leishmania major infection. J Immunol 165(5):2671-6.