B6.129S-Rag1tm1Mom Airetm1Pltn/ElknKctt


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International strain nameB6.129S-Rag1tm1Mom Airetm1Pltn/ElknKctt
Alternative nameAireRAG1-KO
Strain typeTargeted Mutant Strains : Knock-out
Allele/Transgene symbolAiretm1Pltn,
Gene/Transgene symbolAire

Information from provider

ProviderEliisa Kekalainen
Provider affiliationBacteriology and Immunology, Haartman Institute- University of Helsinki
Genetic informationAire knock-out: 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 transcripts were expressed, and immunohistochemisty experiments on sections of thymus, liver and brain from homozygous mice confirmed that no detectable protein was produced from this allele. Rag1 knock-out: a 1356 bp genomic sequence of the Rag1 gene, encoding the nuclear localization signal and the zinc-finger motif, was replaced by a neomycin cassette. A mutant transcript expressed from this allele was detected by Northern blot in bone marrow-derived cell lines from homozygous mice.
Phenotypic informationLymphopenic Aire knock-out mice: no signs of autoreactivity due to lymphopenia.
Breeding historyAire knock-out mice were outcrossed to Rag1 knock-out mice in the same background for 8 generations. Breeding pairs are homozygous males and heterozygous females (homozygous Aire knock-out mice are reported to have a decreased fertility). Currently testing if homozygous Aire/Rag1 double knock-out mice are fertile.
  • Aire deficient mice develop multiple features of APECED phenotype and show altered immune response.;Ramsey Chris, Winqvist Ola, Puhakka Lea, Halonen Maria, Moro Aune, Kämpe Olle, Eskelin Petra, Pelto-Huikko Markku, Peltonen Leena, ;2002;Human molecular genetics;11;397-409; 11854172
Homozygous fertilenot known
Homozygous viableyes
Homozygous matings requiredno

Information from EMMA

Archiving centreKarolinska Institutet, Stockholm, Sweden
Animals used for archivingheterozygous 0, heterozygous 0
Breeding at archiving centreMice bred for several generations. Pups were used for IVF.
Stage of embryos2-cell

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

MGI phenotypes (allele matching)
  • reduced fertility / MGI
  • increased monocyte cell number / MGI
  • enlarged spleen / MGI
  • decreased body weight / MGI
  • abnormal myelopoiesis / MGI
  • liver inflammation / MGI
  • increased B cell derived lymphoma incidence / MGI
  • abnormal definitive hematopoiesis / MGI
  • abnormal spleen marginal zone morphology / MGI
  • increased spleen weight / MGI
  • increased B cell number / MGI
  • immune system phenotype / MGI
  • decreased follicular B cell number / MGI
  • increased marginal zone B cell number / MGI
  • abnormal metallophilic macrophage morphology / MGI
  • infertility / MGI
  • thymus atrophy / MGI
  • increased autoantibody level / MGI
  • absent adrenal gland / MGI
  • increased T cell proliferation / MGI
  • abnormal T cell morphology / MGI
  • increased granulocyte number / MGI
  • spleen hypoplasia / MGI
  • decreased immunoglobulin level / MGI
  • abnormal level of surface class II molecules / MGI
  • impaired natural killer cell mediated cytotoxicity / MGI
  • increased macrophage cell number / MGI
  • increased NK cell number / MGI
  • decreased CD4-positive, alpha beta T cell number / MGI
  • decreased CD8-positive, alpha-beta T cell number / MGI
  • decreased mature B cell number / MGI
  • increased immature B cell number / MGI
  • scaly skin / MGI
  • dermatitis / MGI
  • thick skin / MGI
  • epidermal hyperplasia / MGI
  • mixed cellular infiltration to dermis / MGI
  • decreased IgM level / MGI
  • ear inflammation / MGI
  • decreased vascular permeability / MGI
  • increased eosinophil cell number / MGI
  • decreased neutrophil cell number / MGI
  • abnormal retina morphology / MGI
  • autoimmune response / MGI
  • abnormal lymphatic vessel morphology / MGI
  • abnormal coat/hair pigmentation / MGI
  • abnormal eye morphology / MGI
  • abnormal skin pigmentation / MGI
  • abnormal respiratory system morphology / MGI
  • abnormal response to infection / MGI
  • decreased susceptibility to induced colitis / MGI
  • thymus hypoplasia / MGI
  • abnormal B cell differentiation / MGI
  • abnormal T cell differentiation / MGI
  • abnormal inguinal lymph node morphology / MGI
  • nervous system phenotype / MGI
  • behavior/neurological phenotype / MGI
  • absent mature B cells / MGI
  • abnormal T cell receptor V(D)J recombination / MGI
  • abnormal immunoglobulin V(D)J recombination / MGI
  • decreased inflammatory response / MGI
  • abnormal double-negative T cell morphology / MGI
  • abnormal thymus epithelium morphology / MGI
  • abnormal neuron proliferation / MGI
  • small thymus / MGI
  • decreased lymphocyte cell number / MGI
  • abnormal bone remodeling / MGI
  • skeleton phenotype / MGI

Literature references

  • Aire deficient mice develop multiple features of APECED phenotype and show altered immune response.;Ramsey Chris, Winqvist Ola, Puhakka Lea, Halonen Maria, Moro Aune, Kämpe Olle, Eskelin Petra, Pelto-Huikko Markku, Peltonen Leena, ;2002;Human molecular genetics;11;397-409; 11854172

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Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

  • Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740*
  • Rederivation of mice from frozen stock, delivery time available upon request . €3880*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

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Practical information

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
For this strain no provider MTA is needed. Distribution is based on the EMMA conditions only.

EMMA conditions
Legally binding conditions for the transfer

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