A trial of phenome analysis using 4000 Ds-insertional mutants in gene-coding regions of Arabidopsis

Plant J. 2006 Aug;47(4):640-51. doi: 10.1111/j.1365-313X.2006.02808.x. Epub 2006 Jun 30.


Mutant lines covering all Arabidopsis genes allow us to pursue systematic functional genomics. A comprehensive phenotype description, called a phenome, is highly sought after in the profiling of -omics data. We selected 4000 transposon-insertional lines with transposon insertions in their gene-coding regions, and systematically observed the visible phenotype of each line. For the first 3 weeks after germination, plants were grown on agar plates and the juvenile phenotypes were recorded. Then the plants were transferred to soil and their phenotypes were recorded at each growth stage. About 140 lines showed clear and reproducible visible phenotypes, including novel phenotypic mutants as well as previously reported ones. All descriptions of the mutants showing visible phenotypes were classified into eight primary categories (seedling, leaves, flowering and growth, stems, branching, flowers, siliques and seed yield) and 43 secondary categories of morphological phenotypes. Phenotypic images have been entered into a searchable database (http://rarge.gsc.riken.jp/phenome/). One example investigated through the use of plural alleles was a mutant of a novel gene related to glycerolipid biosynthesis, with a unique visible phenotype of sepal opening. Our results suggest that we can find more novel visible phenotypes and their corresponding genes, and that phenotypic mutants of gene knockouts are not exhausted yet. This study provides basic data on large-scale phenotyping of gene knockout lines in plants, and will contribute to the completion of an international effort to develop a phenome database of all the functional genes in Arabidopsis.

MeSH terms

  • Arabidopsis / anatomy & histology*
  • Arabidopsis / genetics*
  • DNA Transposable Elements / genetics
  • Gene Expression Profiling*
  • Gene Expression Regulation, Plant
  • Genes, Plant / genetics*
  • Genome, Plant*
  • Genomics*
  • Mutagenesis, Insertional* / genetics
  • Mutation / genetics
  • Open Reading Frames / genetics
  • Phenotype


  • DNA Transposable Elements