Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Bfsp2tm1Pgf
Name:	beaded filament structural protein 2, phakinin; targeted mutation 1, Paul G FitzGerald
MGI ID:	MGI:3624777
Synonyms:	CP49-, phakosinko
Gene:	Bfsp2  Location: Chr9:103302123-103357608 bp, - strand  Genetic Position: Chr9, 55.37 cM
Alliance:	Bfsp2tm1Pgf page

Germline Transmission:	Earliest citation of germline transmission: J:108387
Parent Cell Line:	GK129 (ES Cell)
Strain of Origin:	129P2/OlaHsd

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: A neomycin resistance cassette replaced exon 1. RT-PCR confirmed absence of the exon and presence of the neo. Northern blot did not detect transcripts in mutants. (J:108387)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

1 anatomical structure(s)

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

Original:	J:108387 Alizadeh A, et al., Targeted genomic deletion of the lens-specific intermediate filament protein CP49. Invest Ophthalmol Vis Sci. 2002 Dec;43(12):3722-7
All:	3 reference(s)