Flnb^{Gt(RRF239)Byg}
Gene trapped Allele Detail

Summary

• Symbol: Flnb^{Gt(RRF239)Byg}
• Name: filamin, beta; gene trap RRF239, BayGenomics
• MGI ID: MGI:3775521
• Synonyms: Flnb^-
• Gene: Flnb Location: Chr14:14518185-14651816 bp, - strand Genetic Position: Chr14, 4.59 cM
• Alliance: Flnb^{Gt(RRF239)Byg} page

Mutation origin

• Mutant Cell Line: RRF239
• Germline Transmission: Earliest citation of germline transmission: J:132026
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Gene trapped (Null/knockout, Reporter)
• Mutation: Insertion of gene trap vector Vector: pGT0Lxf Vector Type: gene trap
• Mutation details: A BayGenomics gene trap vector was inserted into intron 3 to create an in frame 5' fusion product of exons 1-3 followed by the reporter beta-geo. The absence of the full length filamin B protein was confirmed by western blot. A beta-galactosidase assay confirmed expression of the lacZ fusion product. (J:132026)
• Sequence Tags: Sequence tag details (1 tag)

  Tag ID	GenBank ID	Method	Tag Location (trapped strand)*	Select
  RRF239	CC249139 ; (MGI Seq Detail)	5' RACE	Chr14:14599898-14651670 bp (-)
  * GRCm39; (strand of gene trap mutagenesis)

• Genome Context: Genome Browser view of this mutation;

  94 gene trap insertions have trapped this gene; View all gene trap sequence tags in this region

Disease models

Expression

In Mice Carrying this Mutation:	21 assay results
In Structures Affected by this Mutation:	7 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Flnb Mutation: 153 strains or lines available

Notes

All BayGenomics gene trap mutations were generated in either CGR8 or E14TG2a (129P2/OlaHsd) parental ES cell lines, with the majority in subline E14TG2a.4. The specific ES cell line in which each mutation was made is not specified.

References

• Original: J:132026 Farrington-Rock C, et al., Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome. Hum Mol Genet. 2008 Mar 1;17(5):631-41
• All: 4 reference(s)