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Phenotypes Associated with This Genotype
Genotype
MGI:5796298
Allelic
Composition
Foxp3tm2.1(EGFP/cre)Shori/Y
Pdcd1tm1Hon/Pdcd1tm1Hon
Genetic
Background
involves: 129 * 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxp3tm2.1(EGFP/cre)Shori mutation (1 available); any Foxp3 mutation (42 available)
Pdcd1tm1Hon mutation (6 available); any Pdcd1 mutation (41 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
• pancreas is atrophic and the exocrine structure is almost completely lost
• early onset of autoimmune exocrine pancreatitis
• total number of cells and frequencies of CD4+ and CD8+ T cells are higher in pancreas and pancreatic lymph nodes

hematopoietic system
• increase in CD4+CD44+ and CD8+CD44+ effector/memory T cells, especially in the pancreatic lymph nodes
• increase in frequencies of both CD4+ and CD8+ T cells, especially those expressing CD44 in the spleen and lymph nodes, indicating an expansion of effector/memory T-cell populations
• the ratios of CD4+CD44+/Treg cells and CD8+CD44+/Treg cells are higher, indicating unbalanced T-cell expansion with dominance of effector/memory T cells versus Treg cells
• increased cellularity of spleen

homeostasis/metabolism

immune system
• early onset of autoimmune exocrine pancreatitis
• total number of cells and frequencies of CD4+ and CD8+ T cells are higher in pancreas and pancreatic lymph nodes
• increase in CD4+CD44+ and CD8+CD44+ effector/memory T cells, especially in the pancreatic lymph nodes
• increase in frequencies of both CD4+ and CD8+ T cells, especially those expressing CD44 in the spleen and lymph nodes, indicating an expansion of effector/memory T-cell populations
• the ratios of CD4+CD44+/Treg cells and CD8+CD44+/Treg cells are higher, indicating unbalanced T-cell expansion with dominance of effector/memory T cells versus Treg cells
• increased cellularity of spleen
• increased cellularity of lymph nodes
• mice die from T-cell-mediated autoimmune destruction, especially autoimmune pancreatitis
• presence of mononuclear infiltrates in multiple organs such as the pancreas, liver, lung or heart
• more than 70% of neonatal mice that receive CD4+CD25+ T cells from wild-type mice survive over 3 months without any signs of disease
• neonatal mice that receive CD4+CD25+ T cells from Pdcd1tm1Hon knock-out mice show no signs of disease

mortality/aging
• all males die within 3 months of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
pancreatitis DOID:4989 OMIM:167800
J:234397


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory