B6.129-Cd247tm1Lov Fcer1gtm1Rav Rag1tm1Mom Tyrobptm1.1Viv/Orl
Status | Available to order |
EMMA ID | EM:01790 |
International strain name | B6.129-Cd247tm1Lov Fcer1gtm1Rav Rag1tm1Mom Tyrobptm1.1Viv/Orl |
Alternative name | ZGKR |
Strain type | Targeted Mutant Strains : Knock-in |
Allele/Transgene symbol | Tyrobptm1.1Viv, Cd247tm1Lov, Fcer1gtm1Rav, Rag1tm1Mom |
Gene/Transgene symbol | Tyrobp, Cd247, Fcer1g, Rag1 |
Information from provider
Provider | Elena Tomasello |
Provider affiliation | U136, CIML |
Genetic information | CD3zeta (Cd247), FcRg (Fcer1g) and Rag1 gene expression has been completely inactivated by homologous recombination. DAP12 (Tyrobp) gene presents a loss-of-function mutation. |
Phenotypic information | Deficiency in natural killer cell function. |
Breeding history | 8 backcrosses to C57BL/6. |
References |
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Information from EMMA
Archiving centre | Institut de Transgenose, INTRAGENE, Orléans, France |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta / Orphanet_169160
- 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
- Nasu-Hakola disease / Orphanet_2770
IMPC phenotypes (gene matching)
MGI phenotypes (allele matching)
- reduced long term depression / MGI
- abnormal long term depression / MGI
- enhanced long term potentiation / MGI
- abnormal lateral geniculate nucleus morphology / MGI
- enlarged lateral ventricles / MGI
- decreased thymocyte number / MGI
- abnormal superior colliculus morphology / MGI
- absent long term depression / MGI
- abnormal brain morphology / MGI
- abnormal CNS synaptic transmission / MGI
- abnormal T-helper 1 cell morphology / MGI
- abnormal excitatory postsynaptic potential / MGI
- decreased double-positive T cell number / MGI
- abnormal T-helper 1 physiology / MGI
- decreased CD4-positive, alpha beta T cell number / MGI
- abnormal single-positive T cell number / MGI
- absent gamma-delta intraepithelial T cell / MGI
- immune system phenotype / MGI
- decreased tumor necrosis factor secretion / MGI
- decreased interleukin-1 beta secretion / MGI
- decreased interleukin-10 secretion / MGI
- decreased interleukin-12b secretion / MGI
- decreased interleukin-23 secretion / MGI
- decreased interleukin-6 secretion / MGI
- abnormal hemoglobin / MGI
- increased susceptibility to parasitic infection / MGI
- skeleton phenotype / MGI
- hematoma / MGI
- decreased platelet aggregation / MGI
- impaired macrophage phagocytosis / MGI
- abnormal immune cell physiology / MGI
- abnormal mast cell physiology / MGI
- abnormal dendritic cell antigen presentation / MGI
- abnormal immunoglobulin level / MGI
- increased IgE level / MGI
- decreased myocardial infarction size / MGI
- decreased susceptibility to experimental autoimmune encephalomyelitis / MGI
- decreased platelet calcium level / MGI
- decreased susceptibility to type I hypersensitivity reaction / MGI
- abnormal platelet activation / MGI
- abnormal NK cell physiology / 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 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
- abnormal T cell morphology / 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
- increased bone mineral density / MGI
- osteopetrosis / MGI
- abnormal microglial cell morphology / MGI
- abnormal myelination / MGI
- abnormal osteoclast physiology / MGI
- abnormal myelopoiesis / MGI
- abnormal excitatory postsynaptic currents / MGI
- decreased bone resorption / MGI
- abnormal axon morphology / MGI
- increased bone mass / MGI
- abnormal bone ossification / MGI
- increased physiological sensitivity to xenobiotic / MGI
- increased bone mineral content / MGI
- increased bone trabecula number / MGI
- increased trabecular bone volume / MGI
- failure of embryo implantation / MGI
- reduced fertility / MGI
- abnormal maternal decidual layer morphology / MGI
- enlarged placenta / MGI
- decreased uterine NK cell number / MGI
- abnormal decidua basalis morphology / MGI
- abnormal uterine spiral artery morphology / MGI
- abnormal uterine spiral artery remodeling / MGI
- decreased susceptibility to type IV hypersensitivity reaction / MGI
- increased dendritic cell number / MGI
MGI phenotypes (gene matching)
- enlarged spleen / MGI
- enlarged lymph nodes / MGI
- small thymus / MGI
- decreased thymocyte number / MGI
- abnormal superior colliculus morphology / MGI
- reduced long term depression / MGI
- thymus hypoplasia / MGI
- abnormal long term depression / MGI
- absent long term depression / MGI
- abnormal T cell differentiation / MGI
- abnormal brain morphology / MGI
- no abnormal phenotype detected / MGI
- abnormal CNS synaptic transmission / MGI
- abnormal double-negative T cell morphology / MGI
- abnormal T-helper 1 cell morphology / MGI
- abnormal T cell physiology / MGI
- abnormal excitatory postsynaptic potential / MGI
- enhanced long term potentiation / MGI
- increased natural killer cell mediated cytotoxicity / MGI
- abnormal thymocyte activation / MGI
- abnormal lateral geniculate nucleus morphology / MGI
- increased susceptibility to experimental autoimmune encephalomyelitis / MGI
- abnormal regulatory T cell physiology / MGI
- increased regulatory T cell number / MGI
- abnormal NK cell morphology / MGI
- increased double-negative T cell number / MGI
- decreased double-positive T cell number / MGI
- abnormal T cell proliferation / MGI
- decreased T cell proliferation / MGI
- immune system phenotype / MGI
- abnormal CD4-positive, alpha-beta T cell physiology / MGI
- abnormal T-helper 1 physiology / MGI
- abnormal NK T cell morphology / MGI
- abnormal T cell morphology / MGI
- decreased NK T cell number / MGI
- decreased CD4-positive, alpha beta T cell number / MGI
- decreased CD8-positive, alpha-beta T cell number / MGI
- abnormal single-positive T cell number / MGI
- decreased single-positive T cell number / MGI
- abnormal T-helper 1 cell differentiation / MGI
- absent gamma-delta intraepithelial T cell / MGI
- abnormal gamma-delta T cell differentiation / MGI
- abnormal alpha-beta intraepithelial T cell morphology / MGI
- enlarged lateral ventricles / MGI
- increased interferon-gamma secretion / MGI
- abnormal intraepithelial T cell morphology / MGI
- abnormal bone marrow cell physiology / MGI
- decreased splenocyte proliferation / MGI
- decreased thymocyte apoptosis / MGI
- abnormal NK cell physiology / MGI
- postnatal lethality, complete penetrance / MGI
- small thymus medulla / MGI
- enlarged thymus cortex / MGI
- abnormal hemoglobin / MGI
- impaired macrophage phagocytosis / MGI
- decreased IgG level / MGI
- abnormal immune cell physiology / MGI
- abnormal antigen presentation / MGI
- decreased inflammatory response / MGI
- abnormal mast cell physiology / MGI
- abnormal macrophage physiology / MGI
- abnormal dendritic cell antigen presentation / MGI
- abnormal immunoglobulin level / MGI
- increased IgE level / MGI
- decreased myocardial infarction size / MGI
- decreased susceptibility to experimental autoimmune encephalomyelitis / MGI
- decreased susceptibility to autoimmune hemolytic anemia / MGI
- decreased platelet calcium level / MGI
- increased susceptibility to parasitic infection / MGI
- impaired natural killer cell mediated cytotoxicity / MGI
- decreased T cell proliferation / MGI
- immune system phenotype / MGI
- skeleton phenotype / MGI
- abnormal CD4-positive, alpha-beta T cell physiology / MGI
- decreased susceptibility to type I hypersensitivity reaction / MGI
- decreased susceptibility to type IV hypersensitivity reaction / MGI
- abnormal platelet activation / MGI
- abnormal NK T cell physiology / MGI
- decreased dendritic cell number / MGI
- decreased IgG1 level / MGI
- decreased IgG2a level / MGI
- decreased IgG2b level / MGI
- decreased IgG3 level / MGI
- abnormal interferon-gamma secretion / MGI
- decreased tumor necrosis factor secretion / MGI
- decreased interferon-gamma secretion / MGI
- decreased interleukin-1 beta secretion / MGI
- decreased interleukin-10 secretion / MGI
- decreased interleukin-12b secretion / MGI
- abnormal interleukin-17 secretion / MGI
- decreased interleukin-2 secretion / MGI
- decreased interleukin-23 secretion / MGI
- decreased interleukin-6 secretion / MGI
- abnormal chemokine secretion / MGI
- hematoma / MGI
- decreased physiological sensitivity to xenobiotic / MGI
- decreased platelet aggregation / MGI
- decreased sensitivity to induced morbidity/mortality / MGI
- decreased sensitivity to xenobiotic induced morbidity/mortality / MGI
- abnormal NK cell physiology / 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
- increased bone mineral density / MGI
- osteopetrosis / MGI
- abnormal microglial cell morphology / MGI
- abnormal myelination / MGI
- abnormal oligodendrocyte morphology / MGI
- decreased startle reflex / MGI
- abnormal osteoclast physiology / MGI
- abnormal myelopoiesis / MGI
- failure of embryo implantation / MGI
- reduced fertility / MGI
- abnormal dendritic cell physiology / MGI
- increased susceptibility to viral infection / MGI
- reduced sensorimotor gating / MGI
- abnormal neuron morphology / MGI
- abnormal excitatory postsynaptic currents / MGI
- abnormal inhibitory postsynaptic currents / MGI
- abnormal bone remodeling / MGI
- enhanced long term potentiation / MGI
- increased natural killer cell mediated cytotoxicity / MGI
- decreased susceptibility to induced arthritis / MGI
- nervous system phenotype / MGI
- increased autoantibody level / MGI
- abnormal maternal decidual layer morphology / MGI
- enlarged placenta / MGI
- increased anti-double stranded DNA antibody level / MGI
- decreased susceptibility to experimental autoimmune encephalomyelitis / MGI
- abnormal osteoclast morphology / MGI
- decreased bone resorption / MGI
- impaired natural killer cell mediated cytotoxicity / MGI
- decreased T cell proliferation / MGI
- increased B cell proliferation / MGI
- behavior/neurological phenotype / MGI
- immune system phenotype / MGI
- skeleton phenotype / MGI
- abnormal axon morphology / MGI
- increased bone mass / MGI
- decreased susceptibility to type IV hypersensitivity reaction / MGI
- abnormal NK T cell physiology / MGI
- increased dendritic cell number / MGI
- increased germinal center B cell number / MGI
- abnormal bone ossification / MGI
- abnormal osteoclast differentiation / MGI
- increased spleen germinal center number / MGI
- increased spleen germinal center size / MGI
- increased IgG2a level / MGI
- increased IgG3 level / MGI
- decreased interferon-gamma secretion / MGI
- increased interleukin-6 secretion / MGI
- increased physiological sensitivity to xenobiotic / MGI
- decreased uterine NK cell number / MGI
- decreased prepulse inhibition / MGI
- increased bone mineral content / MGI
- increased bone trabecula number / MGI
- increased trabecular bone mass / MGI
- increased trabecular bone volume / MGI
- abnormal decidua basalis morphology / MGI
- abnormal uterine spiral artery morphology / MGI
- abnormal uterine spiral artery remodeling / MGI
Literature references
- Multiplicity and plasticity of natural killer cell signaling pathways.;Chiesa Sabrina, Mingueneau Michael, Fuseri Nicolas, Malissen Bernard, Raulet David H, Malissen Marie, Vivier Eric, Tomasello Elena, ;2006;Blood;107;2364-72; 16291591
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