- arrested T cell differentiation / MGI
- abnormal T cell subpopulation ratio / MGI
- abnormal positive T cell selection / MGI
- decreased T cell number / MGI
- absent T cells / MGI
- abnormal double-positive T cell morphology / MGI
- abnormal regulatory T cell number / MGI
- increased double-positive T cell number / MGI
- decreased CD4-positive, alpha beta T cell number / MGI
- decreased CD8-positive, alpha-beta T cell number / MGI
- abnormal CD4-positive, alpha beta T cell morphology / MGI
C57BL/6JSfdAnu-Zap70mrtle/ApbH
Status | Available to order |
EMMA ID | EM:02173 |
International strain name | C57BL/6JSfdAnu-Zap70mrtle/ApbH |
Alternative name | Mr T-Less, C57BL/6Apb-Zap70 |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | Zap70mrtle |
Gene/Transgene symbol | Zap70 |
Information from provider
Provider | Chris Goodnow |
Provider affiliation | The Australian National University |
Genetic information | This strain carries a T to C at nucleotide 1601 (W504R) and was identified by systematically screening the mouse genome for autoimmune regulators. This mutant strain develops fewer CD4 and CD8 positive cells and autoimmunity. The strain has a similar phenotype to the published gene knockouts mutants. This strain may assist in the understanding of the molecular requirements for the development of autoimmune disease. |
Phenotypic information | This strain was identified by severe reduction in T cell numbers in blood, but B cells are normal. Both CD4+ and CD8+ T cell populations were almost completely absent in peripheral blood. Therefore, no alpha/beta T cells but have an increase in gamma/delta T cells. Normal numbers of double-negative (DN) and double-positive (DP) T cells. This implies that they have a block at DP stage and mice are unable to perform positive thymocyte selection. This is intrinsic to T cells and not the microenvironment. Cells are unable to pass thymic selection steps and unable to up-regulate the T cell receptor (TCR). There is also reduced signalling through TCR. Zap70 protein expression of mrt/mrt thymocytes was 25% of wildtype thymocytes. The kinase domain is also affected by this mutation - kinase assays not performed. Heterozygous mice, mrt/+ have normal levels of CD4+ and CD8+ thymocytes but Zap70 protein expression is 2 fold lower. |
References | None available |
Information from EMMA
Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Combined immunodeficiency due to ZAP70 deficiency / Orphanet_911
MGI phenotypes (allele matching)
MGI phenotypes (gene matching)
- osteoporosis / MGI
- absent CD8-positive, alpha-beta T cells / MGI
- mixed cellular infiltration to dermis / MGI
- impaired hematopoiesis / MGI
- abnormal humoral immune response / MGI
- decreased IgG level / MGI
- thymus hypoplasia / MGI
- arrested T cell differentiation / MGI
- abnormal T cell activation / MGI
- increased activated T cell number / MGI
- lung inflammation / MGI
- abnormal T cell differentiation / MGI
- no abnormal phenotype detected / MGI
- small lymph nodes / MGI
- abnormal double-positive T cell morphology / MGI
- abnormal CD4-positive, alpha beta T cell morphology / MGI
- abnormal T cell physiology / MGI
- increased immunoglobulin level / MGI
- increased IgE level / MGI
- chronic joint inflammation / MGI
- joint swelling / MGI
- arthritis / MGI
- fused joints / MGI
- decreased susceptibility to induced arthritis / MGI
- rheumatoid arthritis / MGI
- increased susceptibility to induced arthritis / MGI
- increased autoantibody level / MGI
- absent CD4-positive, alpha beta T cells / MGI
- abnormal thymocyte activation / MGI
- abnormal T cell subpopulation ratio / MGI
- abnormal class switch recombination / MGI
- abnormal T cell selection / MGI
- abnormal positive T cell selection / MGI
- abnormal regulatory T cell physiology / MGI
- abnormal regulatory T cell number / MGI
- decreased regulatory T cell number / MGI
- abnormal T cell clonal deletion / MGI
- increased B cell number / MGI
- decreased T cell number / MGI
- increased double-positive T cell number / MGI
- decreased T cell proliferation / MGI
- immune system phenotype / MGI
- increased memory T cell number / MGI
- absent T cells / MGI
- decreased CD4-positive, alpha beta T cell number / MGI
- decreased CD8-positive, alpha-beta T cell number / MGI
- abnormal CD8-positive, alpha-beta T cell differentiation / MGI
- increased IgG1 level / MGI
- increased IgG2b level / MGI
- increased interleukin-17 secretion / MGI
- decreased interleukin-2 secretion / MGI
- abnormal splenic cell ratio / MGI
- abnormal thymus cell ratio / MGI
- abnormal lymph node cell ratio / MGI
- increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number / MGI
- decreased CD4-positive, CD25-positive, alpha-beta regulatory T cell number / MGI
- increased central memory CD4-positive, alpha-beta T cell number / MGI
- increased effector memory CD4-positive, alpha-beta T cell number / MGI
- increased central memory CD8 positive, alpha-beta T cell number / MGI
- decreased CD8-positive, naive alpha-beta T cell number / MGI
- impaired humoral immune response / MGI
- joint dislocation / MGI
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