Ush1g-KO 基因敲除小鼠

1. Vartanian, Vladimir, Krey, Jocelyn F, Chatterjee, Paroma, Lloyd, R Stephen, Barr-Gillespie, Peter G. 2023. Spontaneous allelic variant in deafness-blindness gene Ush1g resulting in an expanded phenotype. In Genes, brain, and behavior, 22, e12849. doi:10.1111/gbb.12849. https://pubmed.ncbi.nlm.nih.gov/37328946/

2. Weil, Dominique, El-Amraoui, Aziz, Masmoudi, Saber, Yonekawa, Hiromichi, Petit, Christine. . Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. In Human molecular genetics, 12, 463-71. doi:. https://pubmed.ncbi.nlm.nih.gov/12588794/

3. Yildirim, Adem, Mozaffari-Jovin, Sina, Wallisch, Ann-Kathrin, Lührmann, Reinhard, Wolfrum, Uwe. . SANS (USH1G) regulates pre-mRNA splicing by mediating the intra-nuclear transfer of tri-snRNP complexes. In Nucleic acids research, 49, 5845-5866. doi:10.1093/nar/gkab386. https://pubmed.ncbi.nlm.nih.gov/34023904/