Bfsp2 mutation found in mouse 129 strains causes the loss of CP49'and induces vimentin-dependent changes in the lens fibre cell cytoskeleton
A Sandilands, X Wang, AM Hutcheson, J James… - Experimental eye …, 2004 - Elsevier
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 129S1/SvImJ, 129S2/SvPas and
129S4/SvJae strains confirmed the presence of this mutation in these diverse 129 strains …
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 129S1/SvImJ, 129S2/SvPas and
129S4/SvJae strains confirmed the presence of this mutation in these diverse 129 strains …