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Airetm1Ptsn
Targeted Allele Detail
Summary
Symbol: Airetm1Ptsn
Name: autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy); targeted mutation 1, Part Peterson
MGI ID: MGI:3722595
Gene: Aire  Location: Chr10:77865856-77879444 bp, - strand  Genetic Position: Chr10, 39.72 cM
Alliance: Airetm1Ptsn page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:124288
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  C57BL/6
Mutation
description
Allele Type:    Targeted (Null/knockout, Reporter)
Mutation:    Insertion
 
Mutation detailsInsertion of a lacZ gene into exon 8 interrupted the PHD1 domain, reflecting the common 13 base pair deletion in human Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy patients. A floxed neomycin cassette was included downstream of the lacZ gene for selection purposes and was subsequently removed by expression of cre recombinase. This allele was predicted to encode a truncated protein containing the first 310 amino acids fused to beta-gal protein. No native protein was detected by flow cytometry in thymic epithelial cells of homozygote mice. Beta-gal protein was detected by immunohistochemistry on thymic tissue sections. (J:124288, J:145910)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 33 assay results
In Structures Affected by this Mutation: 6 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Aire Mutation:  42 strains or lines available
References
Original:  J:124288 Kont V, et al., Modulation of Aire regulates the expression of tissue-restricted antigens. Mol Immunol. 2008 Jan;45(1):25-33
All:  10 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
11/26/2022
MGI 6.22
The Jackson Laboratory