Aire^tm1Ptsn
Targeted Allele Detail

Summary

• Symbol: Aire^tm1Ptsn
• 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: Aire^tm1Ptsn 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 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)

Expression

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)

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: 52 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: 11 reference(s)