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Targeted Allele Detail
Symbol: Airetm1.1Doi
Name: autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy); targeted mutation 1.1, Christophe Benoist and Diane Mathis
MGI ID: MGI:2661910
Synonyms: Aire-, Aireo, HD Aire-
Gene: Aire  Location: Chr10:78030022-78043610 bp, - strand  Genetic Position: Chr10, 39.72 cM
Stomach autoimmunity in Airetm1.1Doi/Airetm1.1Doi mice

Show the 1 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:83422
Parent Cell Line:  D3 (ES Cell)
Strain of Origin:  129S2/SvPas
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsThe floxed fragment containing exon 2, portions of the surrounding introns, and a neo cassette were excised via cre mediated recombination in vivo. While shortened transcript was detected by RT-PCR analysis of homozygous mutant thymii, sequence analysis of the transcript identified a frameshift mutation resulting from the splicing of exons 1 and 3 that precludes translation past exon 1. (J:83422)
Inheritance:    Recessive
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: 2 strains available      Cell Lines: 0 lines available
Carrying any Aire Mutation:  34 strains or lines available
Original:  J:83422 Anderson MS, et al., Projection of an immunological self shadow within the thymus by the aire protein. Science. 2002 Nov 15;298(5597):1395-401
All:  76 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