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Allele : Aire<tm1Ptsn> autoimmune regulator; targeted mutation 1, Part Peterson

Primary Identifier  MGI:3722595 Allele Type  Targeted
Attribute String  Null/knockout, Reporter Gene  Aire
Transmission  Germline Strain of Origin  C57BL/6
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Insertion
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

15 Publication categories