Phenotypes Associated with This Genotype

Genotype
MGI:5796298

• Allelic Composition: Foxp3^{tm2.1(EGFP/cre)Shori}/Y; Pdcd1^tm1Hon/Pdcd1^tm1Hon
• Genetic Background: involves: 129 * 129S2/SvPas * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

endocrine/exocrine glands

pancreas atrophy ( J:234397 )

♂ • pancreas is atrophic and the exocrine structure is almost completely lost

pancreas inflammation ( J:234397 )

♂ • 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

enlarged spleen ( J:234397 )

♂

spleen hyperplasia ( J:234397 )

♂ • increased cellularity of spleen

increased effector memory T-helper cell number ( J:234397 )

♂ • 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

homeostasis/metabolism

decreased circulating lipase level ( J:234397 )

♂

immune system

pancreas inflammation ( J:234397 )

♂ • 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

enlarged spleen ( J:234397 )

♂

spleen hyperplasia ( J:234397 )

♂ • increased cellularity of spleen

increased effector memory T-helper cell number ( J:234397 )

♂ • 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

♂ • increase in CD4+CD44+ and CD8+CD44+ effector/memory T cells, especially in the pancreatic lymph nodes

♂ • 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

enlarged lymph nodes ( J:234397 )

♂

lymph node hyperplasia ( J:234397 )

♂ • increased cellularity of lymph nodes

increased susceptibility to autoimmune disorder ( J:234397 )

♂ • 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 Pdcd1^tm1Hon knock-out mice show no signs of disease

mortality/aging

premature death ( J:234397 )

♂ • all males die within 3 months of age

growth/size/body

enlarged spleen ( J:234397 )

♂

spleen hyperplasia ( J:234397 )

♂ • increased cellularity of spleen

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