- 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
B6.129S-Rag1tm1Mom Airetm1Pltn/ElknKctt
Status | Available to order |
EMMA ID | EM:02447 |
International strain name | B6.129S-Rag1tm1Mom Airetm1Pltn/ElknKctt |
Alternative name | AireRAG1-KO |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Airetm1Pltn, |
Gene/Transgene symbol | Aire |
Information from provider
Provider | Eliisa Kekalainen |
Provider affiliation | Bacteriology and Immunology, Haartman Institute- University of Helsinki |
Genetic information | Aire 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 information | Lymphopenic Aire knock-out mice: no signs of autoreactivity due to lymphopenia. |
Breeding history | Aire 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. |
References |
|
Homozygous fertile | not known |
Homozygous viable | yes |
Homozygous matings required | no |
Immunocompromised | yes |
Information from EMMA
Archiving centre | Karolinska Institutet, Stockholm, Sweden |
Animals used for archiving | heterozygous 0, heterozygous 0 |
Breeding at archiving centre | Mice bred for several generations. Pups were used for IVF. |
Stage of embryos | 2-cell |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Autoimmune polyendocrinopathy type 1 / Orphanet_3453
- Familial isolated hypoparathyroidism due to impaired PTH secretion / Orphanet_189466
- Severe combined immunodeficiency due to complete RAG1/2 deficiency / Orphanet_331206
- Combined immunodeficiency due to partial RAG1 deficiency / Orphanet_231154
- Omenn syndrome / Orphanet_39041
- Combined immunodeficiency with granulomatosis / Orphanet_157949
MGI phenotypes (allele matching)
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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