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| Nomenclature |
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Symbol:
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Airetm1Pltn
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Name:
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autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy);
targeted mutation 1, Leena Peltonen
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MGI ID: |
MGI:2182940 |
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Synonyms: |
Aire-, LA 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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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:77873
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Parent Cell Line:
| J1 (ES Cell) |
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Strain of Origin:
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129S4/SvJae
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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: A neomycin resistance cassette replaced a genomic fragment containing part of exon 6. This mutation mimics a common human mutation of a termination codon in exon 6. RT-PCR analysis demonstrated that aberrant trasncripts were expressed, and immunohistochemisty experiments on sections of thymus liver and brain of homozygous mice confirmed that no detectable protein was made from this allele. (J:77873)
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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:77873
Ramsey C et al.,
"Aire deficient mice develop multiple features of APECED phenotype and show altered immune response."
Hum Mol Genet 2002 Feb 15;11(4):397-409
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All: |
24 reference(s)
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Analysis Tools
