Slc6a5-flox 基因敲除小鼠

1. Carta, Eloisa, Chung, Seo-Kyung, James, Victoria M, Rees, Mark I, Harvey, Robert J. 2012. Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease. In The Journal of biological chemistry, 287, 28975-85. doi:10.1074/jbc.M112.372094. https://pubmed.ncbi.nlm.nih.gov/22700964/

2. Rees, Mark I, Harvey, Kirsten, Pearce, Brian R, Supplisson, Stéphane, Harvey, Robert J. 2006. Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease. In Nature genetics, 38, 801-6. doi:. https://pubmed.ncbi.nlm.nih.gov/16751771/

3. Bogdanik, Laurent P, Chapman, Harold D, Miers, Kathy E, Serreze, David V, Burgess, Robert W. 2012. A MusD retrotransposon insertion in the mouse Slc6a5 gene causes alterations in neuromuscular junction maturation and behavioral phenotypes. In PloS one, 7, e30217. doi:10.1371/journal.pone.0030217. https://pubmed.ncbi.nlm.nih.gov/22272310/

4. Dafsari, Hormos Salimi, Kawalia, Amit, Sprute, Rosanne, Thiele, Holger, Cirak, Sebahattin. 2019. Novel mutations in SLC6A5 with benign course in hyperekplexia. In Cold Spring Harbor molecular case studies, 5, . doi:10.1101/mcs.a004465. https://pubmed.ncbi.nlm.nih.gov/31604777/