Arl2bp-flox 基因敲除小鼠

1. Zhu, Tian, Li, Hui, Wei, Xing, Sun, Zixi, Sui, Ruifang. 2022. Novel homozygous variant in ARL2BP associated with retinitis pigmentosa, situs inversus, and male infertility in a Chinese patient. In Clinical genetics, 103, 472-477. doi:10.1111/cge.14278. https://pubmed.ncbi.nlm.nih.gov/36507858/

2. Moye, Abigail R, Bedoni, Nicola, Cunningham, Jessica G, Rivolta, Carlo, Ramamurthy, Visvanathan. 2019. Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice. In PLoS genetics, 15, e1008315. doi:10.1371/journal.pgen.1008315. https://pubmed.ncbi.nlm.nih.gov/31425546/

3. Davidson, Alice E, Schwarz, Nele, Zelinger, Lina, Sharon, Dror, Webster, Andrew R. 2013. Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa. In American journal of human genetics, 93, 321-9. doi:10.1016/j.ajhg.2013.06.003. https://pubmed.ncbi.nlm.nih.gov/23849777/

4. Placidi, Giorgio, D'Agostino, Elena, Maltese, Paolo Enrico, Chiurazzi, Pietro, Falsini, Benedetto. 2024. A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts. In BMC medical genomics, 17, 100. doi:10.1186/s12920-024-01868-w. https://pubmed.ncbi.nlm.nih.gov/38649918/