Aire^tm1Ptsn

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)