Aire^tm1Mand
Targeted Allele Detail

Summary

• Symbol: Aire^tm1Mand
• Name: autoimmune regulator; targeted mutation 1, Mark S Anderson
• MGI ID: MGI:3793464
• Synonyms: Aire^G228W, Aire^GW
• Gene: Aire Location: Chr10:77865856-77879444 bp, - strand Genetic Position: Chr10, 39.72 cM
• Alliance: Aire^tm1Mand page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:135154
• Parent Cell Line: E14TG2a.4 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• 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)

Disease models

Expression

In Structures Affected by this Mutation:

14 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 Aire Mutation: 52 strains or lines available

References

• 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)