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Targeted Allele Detail
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: Chr3:94954075-94961561 bp, + strand  Genetic Position: Chr3, 40.74 cM, cytoband F2
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 detailsThe 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 structures
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:  22 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.15
The Jackson Laboratory