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Allele : Aire<tm1Mand> autoimmune regulator; targeted mutation 1, Mark S Anderson

Primary Identifier  MGI:3793464 Allele Type  Targeted
Gene  Aire Transmission  Germline
Strain of Origin  129P2/OlaHsd Is Recombinase  false
Is Wild Type  false
molecularNote  The open reading frame was replaced with one which contained a floxed neo cassette inserted between exons 2 and 3 in addition to a point mutation in exon 6 that results in an amino acid substitution of tryptophan for glycine at position 228 (G228W). Cre-mediated recombination in ES cells was used to remove the neo cassette. The mutated protein was expressed at endogenous levels in medullary thymic epithelial cells as determined by immunohistochemistry and flow cytometry.
  • mutations:
  • Nucleotide substitutions,
  • Insertion
  • synonyms:
  • Aire<G228W>,
  • Aire<GW>,
  • Aire<G228W>,
  • Aire<GW>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

Trail: Allele

0 Driven By

13 Publication categories

Trail: Allele