Article
Bfsp2 mutation found in mouse 129 strains causes the loss of CP49 and induces vimentin-dependent changes in the lens fibre cell cytoskeleton.
Experimental eye research - 1 Jan 2004
Sandilands Aileen, Wang Xin, Hutcheson Aileen M, James John, Prescott Alan R, Wegener Alfred, Pekny Milos, Gong Xiahou, Quinlan Roy A
Abstract excerpt
Here we report the first natural mutation in the mouse Bfsp2 gene. Characterisation of mouse Bfsp2 in the 129X1/SvJ revealed a mutation that deleted the acceptor site of exon 2. This results in exon 1 being erroneously spliced to exon 3 causing a frameshift in the reading frame and the introduction of a stop codon at position 2 of exon 3 in the Bfsp2 transcript. RT-PCR studies of lens RNA isolated from...
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