Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Airetm1Ptsn
Name:	autoimmune regulator; 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

Germline Transmission:	Earliest citation of germline transmission: J:124288
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	C57BL/6

Allele Type:    Targeted (Null/knockout, Reporter) Mutation:    Insertion   Mutation details: Insertion 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	33 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	6 anatomical structure(s)

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:	52 strains or lines available

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)