Rfx5^tm1.1Ifo

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Species

Mus musculus

Symbol

Rfx5^tm1.1Ifo

Category

allele

Allele of gene

Rfx5

Transgenic Constructs

None

Synonyms

• RFX5^-

Description

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.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations