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)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Rfx5^tm1.1Ifo/Rfx5^tm1.1Ifo	involves: 129 * C57BL/6
cn2	Rfx5^tm1Ifo/Rfx5^tm1.1Ifo Lyz2^tm1(cre)Ifo/Lyz2^+	involves: 129 * C57BL/6 * C.B-20

Phenotypes:

Affected Systems	hm1	cn2
show or hide all annotated terms
cardiovascular system	√
abnormal Kupffer cell morphology	√
endocrine/exocrine glands	√
abnormal thymus cortex morphology	√
hematopoietic system	√	√
abnormal Kupffer cell morphology	√
abnormal thymus cortex morphology	√
decreased CD4-positive, alpha-beta T cell number	√
decreased single-positive T cell number	√
abnormal dendritic cell morphology	√
abnormal B lymphocyte antigen presentation	√
decreased IgG1 level	√
decreased IgM level	√
abnormal MHC II cell surface expression on macrophages	√	√
immune system	√	√
abnormal Kupffer cell morphology	√
abnormal thymus cortex morphology	√
decreased CD4-positive, alpha-beta T cell number	√
decreased single-positive T cell number	√
abnormal dendritic cell morphology	√
abnormal B lymphocyte antigen presentation	√
decreased IgG1 level	√
decreased IgM level	√
abnormal level of surface class II molecules	√
abnormal MHC II cell surface expression on macrophages	√	√
liver/biliary system	√
abnormal Kupffer cell morphology	√

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

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)