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

Symbol: Airetm1.1Doi Name: autoimmune regulator; targeted mutation 1.1, Christophe Benoist and Diane Mathis MGI ID: MGI:2661910 Synonyms: Aire-, Aireo, HD Aire- Gene: Aire  Location: Chr10:77865856-77879444 bp, - strand  Genetic Position: Chr10, 39.72 cM Alliance: Airetm1.1Doi page

Stomach autoimmunity in Airetm1.1Doi/Airetm1.1Doi mice Show the 1 phenotype image(s) involving this allele.

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

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

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

In Mice Carrying this Mutation:	2 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	14 anatomical structure(s)

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

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:	94 reference(s)