title: Characterization of Ayu17-449 gene expression and resultant kidney pathology in a knockout mouse model.
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.
authors.affiliation: Key Laboratory of Molecular Biology on Infectious Diseases, Chongqing Medical University, Yixueyuanlu-1, Chongqing, China. tanghua86162003@yahoo.com.cn
authors.forename: Hua
authors.initials: H
authors.lastname: Tang
authors.forename: Kimi
authors.initials: K
authors.lastname: Araki
authors.forename: Zhenghua
authors.initials: Z
authors.lastname: Li
authors.forename: Kenichi
authors.initials: K
authors.lastname: Yamamura
mesh_terms: D017398:Alternative Splicing; D000595:Amino Acid Sequence; D000818:Animals; D015152:Blotting, Northern; D002478:Cells, Cultured; D002864:Chromogranins / Q000502:physiology*; D018274:Electroporation; D005260:Female; D005804:Genes, Lethal / Q000502:physiology*; D005822:Genetic Vectors; D006579:Heterozygote; D006720:Homozygote; D019868:Kanamycin Kinase / Q000235:genetics / Q000378:metabolism; D007668:Kidney / Q000378:metabolism / Q000473:pathology*; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D018345:Mice, Knockout; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014018:Tissue Distribution; D001616:beta-Galactosidase / Q000235:genetics / Q000378:metabolism
chemical_list: D002864:Chromogranins; D012333:RNA, Messenger; D019868:Kanamycin Kinase; D001616:beta-Galactosidase