Abstract

The majority of mutations demonstrate variable expressivity and incomplete penetrance and exact causes of these phenomena are usually unknown. The AxinFu mutation in mice shortens tail length (Ruvinsky et al., 1991). It results from insertion of an intracisternal-A particle (IAP) into intron 6 of the Axin gene (Vasicek et al., 1997). Produced mRNA is not only spliced alternatively, but can also undergo correct splicing.  It was suggested that AxinFu causes fused phenotype by encoding a competing form of Axin protein (Hsu et al., 1999). The expressivity and penetrance of this mutant trait varies depending on genetic background and direction of the crosses.  Using RNase protection assay (RPA) we measured the relative quantities of wild and alternatively spliced Axin mRNAs produced by different genotypes. This allows to study whether the mRNA profiles correlate with expressivity of the mutant trait. 

A. Ruvinsky, W. D Flood

Proceedings of the World Congress on Genetics Applied to Livestock Production, Volume 2002. Session 15, , 15.03, 2002
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