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

Symbol:	Bfsp2tm1Raq
Name:	beaded filament structural protein 2, phakinin; targeted mutation 1, Roy A Quinlan
MGI ID:	MGI:2653265
Synonyms:	CP49-
Gene:	Bfsp2  Location: Chr9:103302123-103357608 bp, - strand  Genetic Position: Chr9, 55.37 cM
Alliance:	Bfsp2tm1Raq page

Germline Transmission:	Earliest citation of germline transmission: J:82327
Parent Cell Line:	E14 (ES Cell)
Strain of Origin:	129P2/OlaHsd

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: Exon 1 was replaced with a neomycin selection cassette inserted by homologous recombination. Neither endogenous transcript nor protein was identified by Northern or Western blot analyses of homozygous mutant lens tissue. (J:82327)

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

In Structures Affected by this Mutation:

3 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:82327 Sandilands A, et al., Knockout of the intermediate filament protein CP49 destabilises the lens fibre cell cytoskeleton and decreases lens optical quality, but does not induce cataract. Exp Eye Res. 2003 Mar;76(3):385-91
All:	1 reference(s)