IMPC phenotypes (gene matching)
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 | Rag1tm1Mom, Airetm1Pltn |
| Gene/Transgene symbol | Rag1, 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)
- 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
MGI phenotypes (gene matching)
- increased monocyte cell number / MGI
- abnormal salivary gland morphology / MGI
- enlarged spleen / MGI
- abnormal thymus morphology / MGI
- paralysis / MGI
- hindlimb paralysis / MGI
- demyelination / MGI
- decreased body weight / MGI
- weight loss / MGI
- increased incidence of corneal inflammation / MGI
- retinal degeneration / MGI
- limb grasping / MGI
- abnormal myelopoiesis / MGI
- abnormal T cell activation / MGI
- autoimmune response / MGI
- increased inflammatory response / MGI
- eye inflammation / MGI
- liver inflammation / MGI
- lung inflammation / MGI
- ovary inflammation / MGI
- pancreas inflammation / MGI
- salivary gland inflammation / MGI
- stomach inflammation / MGI
- reduced fertility / MGI
- reduced male fertility / MGI
- infertility / MGI
- increased B cell derived lymphoma incidence / MGI
- premature death / MGI
- abnormal definitive hematopoiesis / MGI
- abnormal spleen marginal zone morphology / MGI
- abnormal thymus medulla morphology / MGI
- abnormal adaptive immunity / MGI
- abnormal sciatic nerve morphology / MGI
- no phenotypic analysis / MGI
- chronic pancreas inflammation / MGI
- thyroid inflammation / MGI
- prostate gland inflammation / MGI
- abnormal nervous system morphology / MGI
- thymus atrophy / MGI
- increased autoantibody level / MGI
- abnormal thymus physiology / MGI
- insulitis / MGI
- increased susceptibility to autoimmune diabetes / MGI
- abnormal regulatory T cell physiology / MGI
- increased spleen weight / MGI
- decreased regulatory T cell number / MGI
- increased B cell number / MGI
- increased T cell number / MGI
- cachexia / MGI
- absent adrenal gland / MGI
- increased T cell proliferation / MGI
- increased susceptibility to autoimmune disorder / MGI
- endocrine/exocrine gland phenotype / MGI
- digestive/alimentary phenotype / MGI
- immune system phenotype / MGI
- decreased susceptibility to fungal infection / MGI
- increased susceptibility to fungal infection / MGI
- abnormal CD4-positive, alpha-beta T cell physiology / MGI
- abnormal T-helper 1 physiology / MGI
- uveitis / MGI
- CNS inflammation / MGI
- vitreous body inflammation / MGI
- abnormal T cell morphology / MGI
- increased dendritic cell number / MGI
- decreased dendritic cell number / MGI
- decreased follicular B cell number / MGI
- increased marginal zone B cell number / MGI
- abnormal metallophilic macrophage morphology / MGI
- increased tumor necrosis factor secretion / MGI
- increased interleukin-12 secretion / MGI
- increased interleukin-23 secretion / MGI
- increased interleukin-6 secretion / MGI
- abnormal cytokine level / MGI
- abnormal chemokine level / MGI
- submandibular gland inflammation / MGI
- lacrimal gland inflammation / MGI
- absent Hassall's corpuscle / MGI
- abnormal T-helper 17 cell physiology / MGI
- abnormal stomach mucosa morphology / MGI
- parotid gland inflammation / MGI
- sublingual gland inflammation / MGI
- decreased tear production / MGI
- decreased neutrophil cell number / MGI
- increased granulocyte number / MGI
- spleen hypoplasia / MGI
- small thymus / MGI
- absent lymphocyte / MGI
- scaly skin / MGI
- dermatitis / MGI
- thick skin / MGI
- epidermal hyperplasia / MGI
- mixed cellular infiltration to dermis / MGI
- abnormal retina morphology / MGI
- arrested B cell differentiation / MGI
- decreased IgG level / MGI
- decreased IgM level / MGI
- thymus hypoplasia / MGI
- arrested T cell differentiation / MGI
- autoimmune response / MGI
- ear inflammation / MGI
- decreased inflammatory 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 B cell differentiation / MGI
- abnormal T cell differentiation / MGI
- abnormal inguinal lymph node morphology / MGI
- abnormal lymphopoiesis / MGI
- abnormal double-negative T cell morphology / MGI
- abnormal double-positive T cell morphology / MGI
- decreased immunoglobulin level / MGI
- abnormal immunoglobulin level / MGI
- abnormal bone remodeling / MGI
- decreased vascular permeability / MGI
- nervous system phenotype / MGI
- spontaneous chromosome breakage / MGI
- abnormal class switch recombination / MGI
- increased eosinophil cell number / MGI
- decreased lymphocyte cell number / MGI
- decreased B cell number / MGI
- decreased T cell number / MGI
- abnormal response to infection / MGI
- abnormal level of surface class II molecules / MGI
- impaired natural killer cell mediated cytotoxicity / MGI
- increased double-negative T cell number / MGI
- decreased double-positive T cell number / MGI
- behavior/neurological phenotype / MGI
- skeleton phenotype / MGI
- increased macrophage cell number / MGI
- absent late pro-B cells / MGI
- abnormal T cell morphology / MGI
- increased NK cell number / MGI
- absent T cells / MGI
- absent B cells / MGI
- decreased CD4-positive, alpha beta T cell number / MGI
- decreased CD8-positive, alpha-beta T cell number / MGI
- increased pro-B cell number / MGI
- decreased mature B cell number / MGI
- absent mature B cells / MGI
- absent immature B cells / MGI
- increased immature B cell number / MGI
- decreased gamma-delta T cell number / MGI
- decreased susceptibility to induced colitis / MGI
- abnormal T cell receptor V(D)J recombination / MGI
- abnormal immunoglobulin V(D)J recombination / MGI
- abnormal T cell receptor beta chain V(D)J recombination / MGI
- abnormal immunoglobulin heavy chain V(D)J recombination / MGI
- abnormal thymus epithelium morphology / MGI
- abnormal neuron proliferation / 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
- Lymphopenia-induced proliferation in the absence of functional Autoimmune regulator (Aire) induces colitis in mice.;Kekäläinen Eliisa, Lehto Maija-Katri, Smeds Eero, Pöntynen Nora, Pekkarinen Pirkka T, Ulmanen Ismo, Miettinen Aaro, Arstila T Petteri, ;2015;Immunology letters;167;17-22; 26112418