Aire^tm1Pltn
Targeted Allele Detail

Summary

• Symbol: Aire^tm1Pltn
• Name: autoimmune regulator; targeted mutation 1, Leena Peltonen
• MGI ID: MGI:2182940
• Synonyms: Aire-, LA Aire ^-
• Gene: Aire Location: Chr10:77865856-77879444 bp, - strand Genetic Position: Chr10, 39.72 cM
• Alliance: Aire^tm1Pltn page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:77873
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• 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)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	7 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 4 strains available Cell Lines: 0 lines available
• Carrying any Aire Mutation: 52 strains or lines available

References

• 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
• All: 41 reference(s)