Functional analisis of invgene which determines lef-right axis and relates to renal development

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Vertebrate organisms have a common left-right asymmetry of their visceral organs. However, all unpaired organs of the chest and abdomen, such as heart, stomach, spleen and liver, develop from the midline in the fetus and localize to their normal positions in the adult. The mirror image reversal of this asymmetry is called situs inversus. The inversion of embryonic turning (tnv) mutation in a mouse was created by random insertional mutagenesis. The phenotype of the inv mouse is a consistent mirror-image reversal of the left-right polarity (situs inversus) and cystic formation of the kidneys. In previous project, we succeeded in cloning the whole sequence of mouse inv. As protein encoded by a candidate gene involved 15 consecutive repeats of ankyrin motif, there may be a possibility that a cytoskeletal abnormality was involved in the mechanism and production of structural abnormalities, inversion and cyst formation in the kidney. Based on the sequencing data, we had new results as to inv gene summarized below :1) We succeeded in cloning the human inv gene and determined genomic organization, chromosomal mapping.2) We modified mouse inv gene with some reporter genes, such as GFP protein or lacZ, and inserted into the expression vectors. We intend to use expression vector mounted whole mouse inv gene for transfection analysis in the culture cells.3) We modified mouse inv gene with some reporter genes, such as GFP protein or lacZ, and excluded exon 1 to 2 for made up targeting vector for knockout mouse.