Aire^tm1.1Doi
Targeted Allele Detail

Summary

• Symbol: Aire^tm1.1Doi
• Name: autoimmune regulator; targeted mutation 1.1, Christophe Benoist and Diane Mathis
• MGI ID: MGI:2661910
• Synonyms: Aire-, Aire^o, HD Aire^-
• Gene: Aire Location: Chr10:77865856-77879444 bp, - strand Genetic Position: Chr10, 39.72 cM
• Alliance: Aire^tm1.1Doi page

Stomach autoimmunity in Aire^tm1.1Doi/Aire^tm1.1Doi mice

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:83422
• Parent Cell Line: D3 (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: The floxed fragment containing exon 2, portions of the surrounding introns, and a neo cassette were excised via cre mediated recombination in vivo. While shortened transcript was detected by RT-PCR analysis of homozygous mutant thymii, sequence analysis of the transcript identified a frameshift mutation resulting from the splicing of exons 1 and 3 that precludes translation past exon 1. (J:83422)
• Inheritance: Recessive

Disease models

Expression

In Mice Carrying this Mutation:	2 assay results 2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	14 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Aire Mutation: 52 strains or lines available

References

• Original: J:83422 Anderson MS, et al., Projection of an immunological self shadow within the thymus by the aire protein. Science. 2002 Nov 15;298(5597):1395-401
• All: 99 reference(s)