Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Airetm1Mand
Name:	autoimmune regulator; targeted mutation 1, Mark S Anderson
MGI ID:	MGI:3793464
Synonyms:	AireG228W, AireGW
Gene:	Aire  Location: Chr10:77865856-77879444 bp, - strand  Genetic Position: Chr10, 39.72 cM
Alliance:	Airetm1Mand page

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 details: 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. (J:135154)

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

In Structures Affected by this Mutation:

14 anatomical structure(s)

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:	52 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)