Rfx5^tm1.1Ifo
Targeted Allele Detail

Summary

• Symbol: Rfx5^tm1.1Ifo
• Name: regulatory factor X, 5 (influences HLA class II expression); targeted mutation 1.1, Irmgard Foerster
• MGI ID: MGI:2386501
• Synonyms: RFX5^-
• Gene: Rfx5 Location: Chr3:94861355-94868685 bp, + strand Genetic Position: Chr3, 40.74 cM, cytoband F2
• Alliance: Rfx5^tm1.1Ifo page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:67941
• Parent Cell Line: E14.1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: The floxed region containing exons encoding the DNA binding domain (exons 4 through 7) and a neo cassette was excised via the expression of cre recombinase in vivo. RT-PCR and sequence analyses showed the deletion to result in the aberrant splicing of exon 3 to exon 8 and generate a frameshift mutation. A premature stop codon was identified, precluding the translation of a protein product longer than 77 residues, resulting in a truncated protein similar to mutant proteins identified in patients with MHC-II deficiency. (J:67941)

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• 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 Rfx5 Mutation: 34 strains or lines available

References

• Original: J:67941 Clausen BE, et al., Residual MHC class II expression on mature dendritic cells and activated B cells in RFX5-deficient mice. Immunity. 1998 Feb;8(2):143-55
• All: 4 reference(s)