Characterization of Ayu17-449 gene expression and resultant kidney pathology in a knockout mouse model

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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.

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We thank Mrs. Nakada for staining of all tissue sections. This study was supported in part by KAKENHI (Grant-in-Aid for Scientific Research) on Priority Areas “Integrative Research Toward the Conquest of Cancer” from the Ministry of Education, Culture, Sports, Science and Technology of Japan, a grant from the Osaka Foundation of Promotion of Clinical Immunology; and a grant from the National Nature Science Foundation of China (30671080).

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Correspondence to Hua Tang or Kenichi Yamamura.

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Tang, H., Araki, K., Li, Z. et al. Characterization of Ayu17-449 gene expression and resultant kidney pathology in a knockout mouse model. Transgenic Res 17, 599–608 (2008) doi:10.1007/s11248-008-9170-y

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  • Acidic granules
  • ES cells
  • Gene trapping
  • Proximal convoluted tubules