About   Help   FAQ
Targeted Allele Detail
Symbol: Airetm1Mand
Name: autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy); targeted mutation 1, Mark S Anderson
MGI ID: MGI:3793464
Synonyms: AireG228W, AireGW
Gene: Aire  Location: Chr10:78030022-78043610 bp, - strand  Genetic Position: Chr10, 39.72 cM
Germline Transmission:  Earliest citation of germline transmission: J:135154
Parent Cell Line:  E14TG2a.4 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Allele Type:    Targeted
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsThe 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. (J:135154)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 14 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 Aire Mutation:  33 strains or lines available
Original:  J:135154 Su MA, et al., Mechanisms of an autoimmunity syndrome in mice caused by a dominant mutation in Aire. J Clin Invest. 2008 May;118(5):1712-26
All:  7 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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.14
The Jackson Laboratory