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Airetm1Mmat
Targeted Allele Detail
Nomenclature
Symbol: Airetm1Mmat
Name: autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy); targeted mutation 1, Mitsuru Matsumoto
MGI ID: MGI:3573749
Gene: Aire  Location: Chr10:78030022-78043610 bp, - strand  Genetic Position: Chr10, 39.72 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:96580
Parent Cell Line:  TT2 (ES Cell)
Strain of Origin:  (C57BL/6NCrlj x CBA/JNCrlj)F1
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
    Neo replaced exons 5-12, including the sequences encoding the SAND, PHD1 and PHD2 regions. (J:96580)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 3 assay results
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:  11 strains or lines available
References
Original:  J:96580 Kuroda N, et al., Development of autoimmunity against transcriptionally unrepressed target antigen in the thymus of Aire-deficient mice. J Immunol. 2005 Feb 15;174(4):1862-70
All:  5 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory