Characterization of Ayu17-449 gene expression and resultant kidney pathology in a knockout mouse model
Characterization of Ayu17-449 gene expression and resultant kidney pathology in a knockout mouse model
复制标题
敲除小鼠模型中 Ayu17-449 基因表达及由此产生的肾脏病理学特征
DOI：
10.1007/s11248-008-9170-y
复制
发表时间：
2008-08-01
影响因子：
3
通讯作者：
Yamamura, Kenichi
中科院分区：
文献类型：
--
作者：
Tang, Hua;Araki, Kimi;Yamamura, Kenichi
基因捕获技术是表征和突变小鼠基因的有效方法。我们使用这种方法鉴定了功能未知的小鼠基因并建立了突变小鼠系。随后，我们在小鼠 3 号染色体上鉴定了一个基因，表示为 Ayu17-449，该基因包含 14 个外显子，编码 1920 个氨基酸，其 N 端序列中带有粒蛋白基序。在成年小鼠中，该基因在大脑、心脏、肺、肌肉、胃和肾脏中高度表达。将捕获载体插入该基因的第二个内含子导致无效突变。这些突变的纯合子小鼠在出生后 1 天死亡。突变小鼠的肾脏近曲小管中酸性颗粒减少。我们的数据表明 Ayu17-449 对于小鼠的生存很重要。
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, denotedAyu17-449, 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 thatAyu17-449is important for mouse survival.