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

Transgenic Res. 2008 Aug;17(4):599-608. doi: 10.1007/s11248-008-9170-y. Epub 2008 Feb 21.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alternative Splicing
  • Amino Acid Sequence
  • Animals
  • Blotting, Northern
  • Cells, Cultured
  • Chromogranins / physiology*
  • Electroporation
  • Female
  • Genes, Lethal / physiology*
  • Genetic Vectors*
  • Heterozygote
  • Homozygote
  • Kanamycin Kinase / genetics
  • Kanamycin Kinase / metabolism
  • Kidney / metabolism
  • Kidney / pathology*
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Molecular Sequence Data
  • Mutation / genetics
  • Phenotype
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Reverse Transcriptase Polymerase Chain Reaction
  • Tissue Distribution
  • beta-Galactosidase / genetics
  • beta-Galactosidase / metabolism

Substances

  • Chromogranins
  • RNA, Messenger
  • Kanamycin Kinase
  • beta-Galactosidase