|
|
| Nomenclature |
|
Symbol:
|
Airetm1Mand
|
|
Name:
|
autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy);
targeted mutation 1, Mark S Anderson
|
|
MGI ID: |
MGI:3793464 |
|
Synonyms: |
AireG228W |
|
Gene:
|
Aire
Location:
Chr10:78030022-78043610 bp, - strand
Genetic Position: Chr10,
39.72 cM
|
|
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 (knock-in) |
|
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)
|
|
Phenotypes
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| 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:
|
10 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: |
4 reference(s)
|
|
Analysis Tools
