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

Symbol:	Rfx5tm1.1Ifo
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:	Rfx5tm1.1Ifo page

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

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)

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

In Structures Affected by this Mutation:

2 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 Rfx5 Mutation:	34 strains or lines available

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)