Tang Hua, Araki Kimi, Li Zhenghua, Yamamura Kenichi
Key Laboratory of Molecular Biology on Infectious Diseases, Chongqing Medical University, Yixueyuanlu-1, Chongqing, China.
Transgenic Res. 2008 Aug;17(4):599-608. doi: 10.1007/s11248-008-9170-y. Epub 2008 Feb 21.
The gene trap technique is a powerful approach for characterizing and mutating genes in the mouse. We used this method to identify a mouse gene of unknown function and to establish a mutant mouse line. We subsequently identified one gene, denoted Ayu17-449, on mouse chromosome 3 that comprised 14 exons encoding 1920 amino acids with a granin motif in its N-terminal sequence. In adult mice, this gene was highly expressed in the brain, heart, lung, muscle, stomach, and kidney. The insertion of a trap vector into the second intron of this gene resulted in the null mutation. Homozygous mice for these mutation died by 1 day after birth. Mutant mice showed a loss of acidic granules in the proximal convoluted tubules of the kidney. Our data demonstrates that Ayu17-449 is important for mouse survival.
基因捕获技术是在小鼠中鉴定和突变基因的一种强大方法。我们使用该方法鉴定了一个功能未知的小鼠基因，并建立了一个突变小鼠品系。随后，我们在小鼠3号染色体上鉴定出一个名为Ayu17 - 449的基因，该基因由14个外显子组成，编码1920个氨基酸，其N端序列含有一个嗜铬粒蛋白基序。在成年小鼠中，该基因在脑、心脏、肺、肌肉、胃和肾脏中高表达。将捕获载体插入该基因的第二个内含子导致了无效突变。这些突变的纯合小鼠在出生后1天内死亡。突变小鼠的肾近端曲管中酸性颗粒缺失。我们的数据表明，Ayu17 - 449对小鼠生存至关重要。
