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Targeted Allele Detail
Symbol: Airetm1Pltn
Name: autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy); targeted mutation 1, Leena Peltonen
MGI ID: MGI:2182940
Synonyms: Aire-, LA Aire -
Gene: Aire  Location: Chr10:78030022-78043610 bp, - strand  Genetic Position: Chr10, 39.72 cM
Germline Transmission:  Earliest citation of germline transmission: J:77873
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA neomycin resistance cassette replaced a genomic fragment containing part of exon 6. This mutation mimics a common human mutation of a termination codon in exon 6. RT-PCR analysis demonstrated that aberrant trasncripts were expressed, and immunohistochemisty experiments on sections of thymus liver and brain of homozygous mice confirmed that no detectable protein was made from this allele. (J:77873)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 7 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 4 strains available      Cell Lines: 0 lines available
Carrying any Aire Mutation:  33 strains or lines available
Original:  J:77873 Ramsey C, et al., Aire deficient mice develop multiple features of APECED phenotype and show altered immune response. Hum Mol Genet. 2002 Feb 15;11(4):397-409
All:  34 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)
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last database update
MGI 6.16
The Jackson Laboratory