Sbf2^{Gt(RRF511)Byg}
Gene trapped Allele Detail

Summary

• Symbol: Sbf2^{Gt(RRF511)Byg}
• Name: SET binding factor 2; gene trap RRF511, BayGenomics
• MGI ID: MGI:3783290
• Synonyms: Mtmr13^-, Sbf2^{Gt(pGT0Lxf)1Ucd}
• Gene: Sbf2 Location: Chr7:109907220-110214129 bp, - strand Genetic Position: Chr7, 57.7 cM, cytoband F2
• Alliance: Sbf2^{Gt(RRF511)Byg} page

Peripheral neuropathology in Sbf2^{Gt(RRF511)Byg}/Sbf2^{Gt(RRF511)Byg} mice

Show the 5 phenotype image(s) involving this allele.

Mutation origin

• Mutant Cell Line: RRF511
• Germline Transmission: Earliest citation of germline transmission: J:133391
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Gene trapped (Null/knockout)
• Mutation: Insertion of gene trap vector Vector: pGT0Lxf Vector Type: gene trap
• Mutation details: Exon 17 was replaced by a beta-geo gene trap vector. The absence of protein product was confirmed by western blot analysis on brain and sciatic nerve extracts. This is a null allele. (J:133391)
• Sequence Tags: Sequence tag details (1 tag)

  Tag ID	GenBank ID	Method	Tag Location (trapped strand)*	Select
  RRF511	CC325994 ; (MGI Seq Detail)	5' RACE	Chr7:110020001-110040191 bp (-)
  * GRCm39; (strand of gene trap mutagenesis)

• Genome Context: Genome Browser view of this mutation;

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

Disease models

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 Sbf2 Mutation: 105 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:133391 Robinson FL, et al., Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice. Proc Natl Acad Sci U S A. 2008 Mar 25;105(12):4916-21
• All: 4 reference(s)