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Bfsp2Dundee
Spontaneous Allele Detail
Nomenclature
Symbol: Bfsp2Dundee
Name: beaded filament structural protein 2, phakinin; Dundee
MGI ID: MGI:2671074
Gene: Bfsp2  Location: Chr9:103424924-103480328 bp, - strand  Genetic Position: Chr9, 55.37 cM
Mutation
origin
Strain of Origin:  129X1/SvJ
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsA 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, FVB/N, NZB/BlNJ, and NZW/LacJ backgrounds but not in C3H or C57BL/6J backgrounds.
Inheritance:    Dominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structures
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:  6 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:  10 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
07/09/2019
MGI 6.14
The Jackson Laboratory