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

First Author  Tang H Year  2008
Journal  Transgenic Res Volume  17
Issue  4 Pages  599-608
PubMed ID  18288583 Mgi Jnum  J:140275
Mgi Id  MGI:3813193 Doi  10.1007/s11248-008-9170-y
Citation  Tang H, et al. (2008) Characterization of Ayu17-449 gene expression and resultant kidney pathology in a knockout mouse model. Transgenic Res 17(4):599-608
abstractText  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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