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| Nomenclature |
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Symbol:
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Airetm1Mmat
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Name:
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autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy);
targeted mutation 1, Mitsuru Matsumoto
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MGI ID: |
MGI:3573749 |
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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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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:96580
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Parent Cell Line:
| TT2 (ES Cell) |
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Strain of Origin:
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(C57BL/6NCrlj x CBA/JNCrlj)F1
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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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Neo replaced exons 5-12, including the sequences encoding the SAND, PHD1 and PHD2 regions. (J:96580)
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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Aire Mutation:
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10 strains or lines available |
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| References |
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Original: |
J:96580
Kuroda N et al.,
"Development of autoimmunity against transcriptionally unrepressed target antigen in the thymus of Aire-deficient mice."
J Immunol 2005 Feb 15;174(4):1862-70
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All: |
5 reference(s)
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Analysis Tools
