Alternative splicing and expressivity of the Axinfu allele in mice

Abstract

Variable expressivity and incomplete penetrance are common for numerous mutations. In most cases the reasons behind these phenomena remain obscure. Caused by the insertion of a murine retrotransposon into intron 6 of the Axin locus, the AxinFu mutation induces alternative splicing and ultimately leads to abnormal tail development in mice. In this investigation RNase protection assay was used to investigate the potential connection between alternative splicing with the expressivity and penetrance of the mutant allele. The results reported here confirm previous observations that alternative splicing occurs in mRNA transcribed from the mutant AxinFu allele. However this investigation also shows that lower levels of alternative splicing commonly take place in the wild type transcript. Correlation analysis reveals a significant connection between tail abnormalities and the ratio of correct to alternatively spliced mRNAs. Overall this paper demonstrates that higher levels of alternatively spliced mRNAs correlate with stronger expression of the mutant trait.