All Phenotypes Pdcd1<tm1Hon> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Pdcd1^tm1Hon
targeted mutation 1, Tasuku Honjo
MGI:2386184

Summary

11 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pdcd1^tm1Hon/Pdcd1^tm1Hon	B6.129S2-Pdcd1^tm1Hon	MGI:3054644
hm2	Pdcd1^tm1Hon/Pdcd1^tm1Hon	C.129S2(B6)-Pdcd1^tm1Hon	MGI:3054645
hm3	Pdcd1^tm1Hon/Pdcd1^tm1Hon	involves: 129S2/SvPas	MGI:5770299
hm4	Pdcd1^tm1Hon/Pdcd1^tm1Hon	involves: 129S2/SvPas * C57BL/6	MGI:3054643
cx5	Btla^tm1Kmm/Btla^tm1Kmm Pdcd1^tm1Hon/Pdcd1^tm1Hon	B6.129S-Pdcd1^tm1Hon Btla^tm1Kmm	MGI:3706173
cx6	Foxp3^{tm2.1(EGFP/cre)Shori}/Foxp3^{tm2.1(EGFP/cre)Shori} Pdcd1^tm1Hon/Pdcd1^tm1Hon	involves: 129 * 129S2/SvPas * C57BL/6	MGI:5796346
cx7	Foxp3^{tm2.1(EGFP/cre)Shori}/Y Pdcd1^tm1Hon/Pdcd1^tm1Hon	involves: 129 * 129S2/SvPas * C57BL/6	MGI:5796298
cx8	Pdcd1^tm1Hon/Pdcd1^tm1Hon Tg(Tcra2D2,Tcrb2D2)1Kuch/0	involves: 129S2/SvPas	MGI:3814894
cx9	Fcgr2b^tm1Ttk/Fcgr2b^tm1Ttk Pdcd1^tm1Hon/Pdcd1^tm1Hon	involves: 129S2/SvPas * 129S4/SvJae * BALB/c	MGI:5574062
cx10	Pdcd1^tm1Hon/Pdcd1^tm1Hon Vsir^tm1Lex/Vsir^tm1Lex	involves: 129S2/SvPas * 129S5/SvEvBrd * C57BL/6	MGI:5770302
cx11	Pdcd1^tm1Hon/Pdcd1^tm1Hon Vsir^tm1Lex/Vsir^tm1Lex Tg(Tcra2D2,Tcrb2D2)1Kuch/0	involves: 129S2/SvPas * 129S5/SvEvBrd * C57BL/6	MGI:5770303

Allelic Composition	Pdcd1^tm1Hon/Pdcd1^tm1Hon
Genetic Background	B6.129S2-Pdcd1^tm1Hon

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pdcd1^tm1Hon mutation (6 available); any Pdcd1 mutation (97 available)

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

immune system

arthritis ( J:78802 )

• increased layers of synovial tissues in foot joints at 6 months of age

• arthritic lesions more pronounced at 14 months of age

glomerulonephritis ( J:78802 )

• mild proliferative glomerulonephritis at 6 months age

• less than 50% of glomeruli affected

• by 14 months, 50% of mice with a lupus-like glomerulonephritis

abnormal response to transplant ( J:119356 )

• only about 80% of mice show long term MHC class II mismatch allograft survival (Bm12 into B6) compared to about 100% survival in wild-type mice

• however, survival time of MHC class I mismatch allografts is the same as wild-type controls

renal/urinary system

glomerulonephritis ( J:78802 )

• mild proliferative glomerulonephritis at 6 months age

• less than 50% of glomeruli affected

• by 14 months, 50% of mice with a lupus-like glomerulonephritis

skeleton

arthritis ( J:78802 )

• increased layers of synovial tissues in foot joints at 6 months of age

• arthritic lesions more pronounced at 14 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
systemic lupus erythematosus		DOID:9074	OMIM:152700 OMIM:300809 OMIM:605480 OMIM:608437 OMIM:609903 OMIM:609939 OMIM:610065 OMIM:610066 OMIM:612254 OMIM:612378 OMIM:613145 OMIM:614420	J:78802

Allelic Composition	Pdcd1^tm1Hon/Pdcd1^tm1Hon
Genetic Background	C.129S2(B6)-Pdcd1^tm1Hon

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pdcd1^tm1Hon mutation (6 available); any Pdcd1 mutation (97 available)

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

mortality/aging

premature death ( J:66979 )

• start to die around 5 weeks of age, 2/3 are dead by 30 weeks

cardiovascular system

abnormal heart morphology ( J:66979 )

enlarged heart ( J:66979 )

• massively enlarged hearts at death

decreased heart right ventricle wall thickness ( J:66979 )

• thin right venricular wall

dilated heart ventricle ( J:66979 )

• both ventricles dilated to about 2X normal diameter

cardiac fibrosis ( J:66979 )

• sporadic fibrosis and scar formation

abnormal cardiovascular system physiology ( J:66979 )

abnormal cardiac output ( J:66979 )

• impaired pump function of the heart

abnormal cardiac muscle contractility ( J:66979 )

• reduced movement of the ventricular walls and interventricular septum

immune system

increased autoantibody level ( J:66979 )

• higher titers of autoantibodies (IgG1)

• deposition of IgG and C3 complement around cardiomyocytes

liver/biliary system

enlarged liver ( J:66979 )

• varying degrees of hepatomegaly

muscle

abnormal cardiac muscle contractility ( J:66979 )

• reduced movement of the ventricular walls and interventricular septum

vision/eye

exophthalmos ( J:66979 )

• protrusion of eyeballs occurs a few weeks before death

growth/size/body

enlarged heart ( J:66979 )

• massively enlarged hearts at death

enlarged liver ( J:66979 )

• varying degrees of hepatomegaly

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy		DOID:12930	OMIM:PS115200	J:66979

Allelic Composition	Pdcd1^tm1Hon/Pdcd1^tm1Hon
Genetic Background	involves: 129S2/SvPas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pdcd1^tm1Hon mutation (6 available); any Pdcd1 mutation (97 available)

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

immune system

increased IgA level ( J:222944 )

• moderate in aged mice

increased IgM level ( J:222944 )

• moderate in aged mice

abnormal T cell activation ( J:222944 )

• increased CD44^hiCD62L^lo CD8+ and CD4+ T cells at 6 to 7 months of age

• spontaneous activation of peripheral CD4+ and CD8+ T cells

increased interferon-gamma secretion ( J:222944 )

• on in vitro restimulation of T cells

• when T cells are challenged with antigen

increased inflammatory response ( J:222944 )

• increased leukocyte infiltration with tissue necrosis in several organs including lung, liver and pancreas

endocrine/exocrine glands

pancreas necrosis ( J:222944 )

liver/biliary system

hepatic necrosis ( J:222944 )

respiratory system

pulmonary necrosis ( J:222944 )

hematopoietic system

increased IgA level ( J:222944 )

• moderate in aged mice

increased IgM level ( J:222944 )

• moderate in aged mice

abnormal T cell activation ( J:222944 )

• increased CD44^hiCD62L^lo CD8+ and CD4+ T cells at 6 to 7 months of age

• spontaneous activation of peripheral CD4+ and CD8+ T cells

cellular

hepatic necrosis ( J:222944 )

pancreas necrosis ( J:222944 )

pulmonary necrosis ( J:222944 )

Allelic Composition	Pdcd1^tm1Hon/Pdcd1^tm1Hon
Genetic Background	involves: 129S2/SvPas * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pdcd1^tm1Hon mutation (6 available); any Pdcd1 mutation (97 available)

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

hematopoietic system

increased B cell proliferation ( J:50688 )

• proliferative response of B cells to anti-IgM is greatly enhanced

enlarged spleen ( J:50688 )

• moderate splenomegaly

abnormal leukopoiesis ( J:50688 )

abnormal myelopoiesis ( J:50688 )

• myeloid lineages in the spleen are also increased

increased lymphocyte cell number ( J:50688 )

• lymphoid cells in the peritoneal cavity increased about 2 fold

increased B cell number ( J:50688 )

• increased numbers of B cells in the spleen

increased B-1 B cell number ( J:50688 )

• B1 cells in the peritoneal cavity are increased

abnormal immunoglobulin level ( J:50688 )

• increased T cell independent antigen responses

• T cell dependent antigen responses were normal

increased IgA level ( J:50688 )

increased IgG2b level ( J:50688 )

• IgG2b levels were increased

increased IgG3 level ( J:50688 )

• IgG3 levels were 3X normal

immune system

increased B cell proliferation ( J:50688 )

• proliferative response of B cells to anti-IgM is greatly enhanced

enlarged spleen ( J:50688 )

• moderate splenomegaly

abnormal leukopoiesis ( J:50688 )

abnormal myelopoiesis ( J:50688 )

• myeloid lineages in the spleen are also increased

increased lymphocyte cell number ( J:50688 )

• lymphoid cells in the peritoneal cavity increased about 2 fold

increased B cell number ( J:50688 )

• increased numbers of B cells in the spleen

increased B-1 B cell number ( J:50688 )

• B1 cells in the peritoneal cavity are increased

abnormal immunoglobulin level ( J:50688 )

• increased T cell independent antigen responses

• T cell dependent antigen responses were normal

increased IgA level ( J:50688 )

increased IgG2b level ( J:50688 )

• IgG2b levels were increased

increased IgG3 level ( J:50688 )

• IgG3 levels were 3X normal

growth/size/body

enlarged spleen ( J:50688 )

• moderate splenomegaly

cellular

increased B cell proliferation ( J:50688 )

• proliferative response of B cells to anti-IgM is greatly enhanced

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
systemic lupus erythematosus		DOID:9074	OMIM:152700 OMIM:300809 OMIM:605480 OMIM:608437 OMIM:609903 OMIM:609939 OMIM:610065 OMIM:610066 OMIM:612254 OMIM:612378 OMIM:613145 OMIM:614420	J:50688

Allelic Composition	Btla^tm1Kmm/Btla^tm1Kmm Pdcd1^tm1Hon/Pdcd1^tm1Hon
Genetic Background	B6.129S-Pdcd1^tm1Hon Btla^tm1Kmm

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Btla^tm1Kmm mutation (3 available); any Btla mutation (30 available)
Pdcd1^tm1Hon mutation (6 available); any Pdcd1 mutation (97 available)

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

immune system

increased T cell proliferation ( J:119356 )

• increase in proliferation in response to fully MHC-mismatched stimulation

• increase is decreased by rapamycin treatment

decreased length of allograft survival ( J:119356 )

• decreased survival time of cardiac allografts (source strain Bm12; 10.5 +/- 1.5 days) compared to mice homozygous for the Btla allele alone (14.3 +/- 3.8 days) or wild-type mice (over 100 days)

hematopoietic system

increased T cell proliferation ( J:119356 )

• increase in proliferation in response to fully MHC-mismatched stimulation

• increase is decreased by rapamycin treatment

cellular

increased T cell proliferation ( J:119356 )

• increase in proliferation in response to fully MHC-mismatched stimulation

• increase is decreased by rapamycin treatment

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxp3^{tm2.1(EGFP/cre)Shori} mutation (1 available); any Foxp3 mutation (55 available)
Pdcd1^tm1Hon mutation (6 available); any Pdcd1 mutation (97 available)

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

mortality/aging

premature death ( J:234397 )

• all females die within 50 days of age

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

Find Mice

♀	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 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

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

Allelic Composition	Pdcd1^tm1Hon/Pdcd1^tm1Hon Tg(Tcra2D2,Tcrb2D2)1Kuch/0
Genetic Background	involves: 129S2/SvPas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pdcd1^tm1Hon mutation (6 available); any Pdcd1 mutation (97 available)
Tg(Tcra2D2,Tcrb2D2)1Kuch mutation (1 available)

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

immune system

decreased susceptibility to experimental autoimmune encephalomyelitis ( J:140751 )

• in conjunction with anti-CTLA-4 antibody treatment, mice exhibit reduced paralysis induced by experimental autoimmune encephalomyelitis (EAE) compared to wild type mice

• however, adoptive transfer of Gt(ROSA)26Sor^tm2Awai Cd19^tm1(cre)Cgn double heterozygous B cells increases paralysis induced by EAE despite treatment with anti-CTLA-4 antibodies compared to wild-type mice receiving Gt(ROSA)26Sor^tm2Awai Cd19^tm1(cre)Cgn double heterozygous B cells

Allelic Composition	Fcgr2b^tm1Ttk/Fcgr2b^tm1Ttk Pdcd1^tm1Hon/Pdcd1^tm1Hon
Genetic Background	involves: 129S2/SvPas * 129S4/SvJae * BALB/c

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fcgr2b^tm1Ttk mutation (7 available); any Fcgr2b mutation (49 available)
Pdcd1^tm1Hon mutation (6 available); any Pdcd1 mutation (97 available)

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

immune system

abnormal cytokine level ( J:207275 )

• inflammatory cytokines, including Il2ra, Tnf, Icos, Il1b, Socs1, and Vcam1, are expressed in the suburothelial layer of mice that have anti-urothelial antibodies

abnormal urine cytokine level ( J:207275 )

• urinary cytokines, including GM-CSF, TNF-alpha, IL1-alpha, G-CSF, and IL-1beta, are upregulated in the urine of mice that have anti-urothelial antibodies

increased autoantibody level ( J:207275 )

• anti-urothelial autoantibodies are seen in the serum as early as 7 weeks of age, with about 50% of mice showing autoantibodies at 10 weeks of age

urinary bladder inflammation ( J:207275 )

• mice that are positive for anti-urothelial antibodies show massive infiltration of inflammatory cells at the suburothelial layer

renal/urinary system

abnormal urine cytokine level ( J:207275 )

• urinary cytokines, including GM-CSF, TNF-alpha, IL1-alpha, G-CSF, and IL-1beta, are upregulated in the urine of mice that have anti-urothelial antibodies

urinary bladder inflammation ( J:207275 )

• mice that are positive for anti-urothelial antibodies show massive infiltration of inflammatory cells at the suburothelial layer

abnormal urinary bladder urothelium morphology ( J:207275 )

• mice that are positive for anti-urothelial antibodies show disarrangement of urothelial plaque on the surface of the bladder and disarranged cellular structure of the bladder epithelium at 16 weeks of age

• surface of bladder epithelium shows poorer plaque formation, exposing bare surface of smaller epithelial cells beneath it, in mice that are positive for anti-urothelial antibodies

oliguria ( J:207275 )

• mice that are positive for anti-urothelial antibodies void less urine per void than wild-type mice, even when corrected for body weight

homeostasis/metabolism

abnormal cytokine level ( J:207275 )

• inflammatory cytokines, including Il2ra, Tnf, Icos, Il1b, Socs1, and Vcam1, are expressed in the suburothelial layer of mice that have anti-urothelial antibodies

abnormal urine cytokine level ( J:207275 )

• urinary cytokines, including GM-CSF, TNF-alpha, IL1-alpha, G-CSF, and IL-1beta, are upregulated in the urine of mice that have anti-urothelial antibodies

growth/size/body

decreased body weight ( J:207275 )

• lower body weight in mice that are positive for anti-urothelial antibodies

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cystitis		DOID:1679		J:207275

Allelic Composition	Pdcd1^tm1Hon/Pdcd1^tm1Hon Vsir^tm1Lex/Vsir^tm1Lex
Genetic Background	involves: 129S2/SvPas * 129S5/SvEvBrd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pdcd1^tm1Hon mutation (6 available); any Pdcd1 mutation (97 available)
Vsir^tm1Lex mutation (2 available); any Vsir mutation (24 available)

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

immune system

immune system phenotype ( J:222944 )

N	• mice do not develop overt autoimmune disease

increased IgA level ( J:222944 )

• moderate in aged mice

increased IgM level ( J:222944 )

• moderate in aged mice

abnormal T cell activation ( J:222944 )

• increased CD44^hiCD62L^lo CD8+ and CD4+ T cells at 6 to 7 months of age

• spontaneous activation of peripheral CD4+ and CD8+ T cells

increased interferon-gamma secretion ( J:222944 )

• on in vitro restimulation of T cells

• when T cells are challenged with antigen

increased interleukin-17 secretion ( J:222944 )

• on in vitro restimulation of T cells

increased tumor necrosis factor secretion ( J:222944 )

• on in vitro restimulation of T cells

increased inflammatory response ( J:222944 )

• increased leukocyte infiltration with tissue necrosis in several organs including lung, liver and pancreas

endocrine/exocrine glands

pancreas necrosis ( J:222944 )

liver/biliary system

hepatic necrosis ( J:222944 )

respiratory system

pulmonary necrosis ( J:222944 )

hematopoietic system

increased IgA level ( J:222944 )

• moderate in aged mice

increased IgM level ( J:222944 )

• moderate in aged mice

abnormal T cell activation ( J:222944 )

• increased CD44^hiCD62L^lo CD8+ and CD4+ T cells at 6 to 7 months of age

• spontaneous activation of peripheral CD4+ and CD8+ T cells

cellular

hepatic necrosis ( J:222944 )

pancreas necrosis ( J:222944 )

pulmonary necrosis ( J:222944 )

Allelic Composition	Pdcd1^tm1Hon/Pdcd1^tm1Hon Vsir^tm1Lex/Vsir^tm1Lex Tg(Tcra2D2,Tcrb2D2)1Kuch/0
Genetic Background	involves: 129S2/SvPas * 129S5/SvEvBrd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pdcd1^tm1Hon mutation (6 available); any Pdcd1 mutation (97 available)
Tg(Tcra2D2,Tcrb2D2)1Kuch mutation (1 available)
Vsir^tm1Lex mutation (2 available); any Vsir mutation (24 available)

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

immune system

increased susceptibility to experimental autoimmune encephalomyelitis ( J:222944 )

• mice exhibit accelerated onset and succumb to complete hindlimb paralysis faster than control mice

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