Bfsp2^Dundee
Spontaneous Allele Detail

Summary

• Symbol: Bfsp2^Dundee
• Name: beaded filament structural protein 2, phakinin; Dundee
• MGI ID: MGI:2671074
• Gene: Bfsp2 Location: Chr9:103302123-103357608 bp, - strand Genetic Position: Chr9, 55.37 cM
• Alliance: Bfsp2^Dundee page

Mutation origin

• Strain of Origin: 129X1/SvJ

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: A deletion of ~6 kb within intron B was identified in the 129X1/SvJ background. The deleted region included 24 bp of the exon 2 splice acceptor site. RT-PCR analysis identified transcript in which exon 2 is skipped and exon 1 splices directly to exon 3. The aberrant splicing generates a frameshift and ultimately a premature stop codon at position 2 of exon 3. Neither normal protein nor truncated fragments were detected by Western blot analysis. This mutation has been detected in 129S1/SvImJ, 129S2/SvPas, 129S4/SvJae, 129P2/OlaHsd, FVB/N, NZB/BlNJ, and NZW/LacJ backgrounds but not in C3H or C57BL/6J backgrounds. (J:85243, J:144160)
• Inheritance: Dominant

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 3 strains available Cell Lines: 0 lines available
• Carrying any Bfsp2 Mutation: 29 strains or lines available

References

• Original: J:85243 Sandilands A, et al., Bfsp2 mutation found in mouse 129 strains causes the loss of CP49' and induces vimentin-dependent changes in the lens fibre cell cytoskeleton. Exp Eye Res. 2004 Apr;78(4):875-89
• All: 17 reference(s)