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| Nomenclature |
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Symbol:
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Airetm1.1Doi
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Name:
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autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy);
targeted mutation 1.1, Christophe Benoist and Diane Mathis
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MGI ID: |
MGI:2661910 |
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Synonyms: |
Aire-, Aireo, HD Aire- |
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Gene:
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Aire
Location:
Chr10:78030022-78043610 bp, - strand
Genetic Position: Chr10,
39.72 cM
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Stomach autoimmunity in Airetm1.1Doi/Airetm1.1Doi mice
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:83422
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Parent Cell Line:
| D3 (ES Cell) |
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Strain of Origin:
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129S2/SvPas
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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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)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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
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All: |
31 reference(s)
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Analysis Tools
