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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Foxp3tm1.1Ayr
targeted mutation 1.1, Alexander Y Rudensky
MGI:2654936
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Foxp3tm1.1Ayr/Foxp3tm1.1Ayr involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3699143
cx2
 		Foxp3tm1.1Ayr/Foxp3tm1.1Ayr
Mir146tm1.1Bal/Mir146tm1.1Bal 		involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:4887824
cx3
 		Foxp3tm1.1Ayr/Y
Rag1tm1Mom/Rag1tm1Mom
Tg(TcraTcrb)425Cbn/0 		Not Specified MGI:3574972
ot4
 		Foxp3tm1.1Ayr/Y involves: 129S1/Sv * 129X1/SvJ MGI:2654941
ot5
 		Foxp3tm1.1Ayr/Y involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3699150


Genotype
MGI:3699143
hm1
Allelic
Composition		 Foxp3tm1.1Ayr/Foxp3tm1.1Ayr
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxp3tm1.1Ayr mutation (0 available); any Foxp3 mutation (58 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
enlarged spleen ( J:117743 )
• observed in 3-week old mutants
abnormal T cell differentiation ( J:125405 )
• the number of CD44+CD25- DN1 cells is increased
lymph node inflammation ( J:117743 )
• observed in 3-week old female mutants
liver inflammation ( J:117743 )
• massive lymphocytic and mononuclear infiltrates in liver sinusoids of females seen at 3 weeks
lung inflammation ( J:117743 )
• massive lymphocytic and mononuclear infiltrates in lung interstitium seen at 3 weeks
dermatitis ( J:117743 )
• massive lymphocytic and mononuclear infiltrates in epidermis seen at 3 weeks in females; not seen in control littermates

hematopoietic system
enlarged spleen ( J:117743 )
• observed in 3-week old mutants
abnormal T cell differentiation ( J:125405 )
• the number of CD44+CD25- DN1 cells is increased

liver/biliary system
liver inflammation ( J:117743 )
• massive lymphocytic and mononuclear infiltrates in liver sinusoids of females seen at 3 weeks

respiratory system
lung inflammation ( J:117743 )
• massive lymphocytic and mononuclear infiltrates in lung interstitium seen at 3 weeks

integument
dermatitis ( J:117743 )
• massive lymphocytic and mononuclear infiltrates in epidermis seen at 3 weeks in females; not seen in control littermates
scaly skin ( J:117743 )
• tail scaling is observed

endocrine/exocrine glands

growth/size/body
enlarged spleen ( J:117743 )
• observed in 3-week old mutants




Genotype
MGI:4887824
cx2
Allelic
Composition		 Foxp3tm1.1Ayr/Foxp3tm1.1Ayr
Mir146tm1.1Bal/Mir146tm1.1Bal
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxp3tm1.1Ayr mutation (0 available); any Foxp3 mutation (58 available)
Mir146tm1.1Bal mutation (2 available); any Mir146 mutation (9 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature aging ( J:167922 )
• soon after 5 weeks when bone marrow is used to reconstitute wild-type mice

immune system
increased regulatory T cell number ( J:167922 )
• when bone marrow is used to reconstitute wild-type mice
abnormal lymphocyte physiology ( J:167922 )
• 6-7 weeks after transfer, massive lymphocyte activation and tissue infiltration in the lung, liver, and skin is observed when bone marrow is used to reconstitute wild-type mice
decreased interferon-gamma secretion ( J:167922 )
• in T cells when bone marrow is used to reconstitute wild-type mice
blepharitis ( J:167922 )
• as early as 5 weeks when bone marrow is used to reconstitute wild-type mice
conjunctivitis ( J:167922 )
• as early as 5 weeks when bone marrow is used to reconstitute wild-type mice
dermatitis ( J:167922 )
• as early as 5 weeks when bone marrow is used to reconstitute wild-type mice

integument
dermatitis ( J:167922 )
• as early as 5 weeks when bone marrow is used to reconstitute wild-type mice

vision/eye
blepharitis ( J:167922 )
• as early as 5 weeks when bone marrow is used to reconstitute wild-type mice
conjunctivitis ( J:167922 )
• as early as 5 weeks when bone marrow is used to reconstitute wild-type mice

hematopoietic system
increased regulatory T cell number ( J:167922 )
• when bone marrow is used to reconstitute wild-type mice
abnormal lymphocyte physiology ( J:167922 )
• 6-7 weeks after transfer, massive lymphocyte activation and tissue infiltration in the lung, liver, and skin is observed when bone marrow is used to reconstitute wild-type mice




Genotype
MGI:3574972
cx3
Allelic
Composition		 Foxp3tm1.1Ayr/Y
Rag1tm1Mom/Rag1tm1Mom
Tg(TcraTcrb)425Cbn/0
Genetic
Background		 Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxp3tm1.1Ayr mutation (0 available); any Foxp3 mutation (58 available)
Rag1tm1Mom mutation (49 available); any Rag1 mutation (123 available)
Tg(TcraTcrb)425Cbn mutation (3 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
immune system phenotype ( J:97029 )
N
• mice exhibit no differences in thymocyte and peripheral T cell subpopulations and normal antigen sensitivity, costimulation requirement and proliferative capacity of nonregulatory CD4+ T cells

normal phenotype
no abnormal phenotype detected ( J:97029 )
• mice were healthy and phenotypically indistinguishable from controls




Genotype
MGI:2654941
ot4
Allelic
Composition		 Foxp3tm1.1Ayr/Y
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxp3tm1.1Ayr mutation (0 available); any Foxp3 mutation (58 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
enlarged spleen ( J:82560 )
• at P21, male hemizygotes exhibit an extremely enlarged spleen
abnormal CD4-positive, alpha beta T cell morphology ( J:82560 )
• mutant CD4+ T cells exhibit an activated phenotype, showing increased CD69, CD44, CTLA-4 and GITR expression along with decreased expression of CD62L relative to wild-type CD4+ T cells
abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology ( J:82560 )
• at P10, male hemizygotes display a significantly reduced CD4+CD25+ regulatory T cell population in both the lymph node and thymus relative to wild-type mice (0.4% and 0.6% vs 3.0% and 3.8%, respectively)
enlarged lymph nodes ( J:82560 )
• at P21, male hemizygotes exhibit extremely enlarged lymph nodes
increased susceptibility to autoimmune disorder ( J:82560 )
• male hemizygotes become moribund at ~4 weeks of age and eventually succumb to aggressive lymphoproliferative autoimmunity
• overt signs of disease are first evident at ~P12, and include runting and scaly and inflamed skin on the ears and tail
skin inflammation ( J:82560 )
• skin inflammation on the ears and tail, first evident at ~P12

hematopoietic system
enlarged spleen ( J:82560 )
• at P21, male hemizygotes exhibit an extremely enlarged spleen
abnormal CD4-positive, alpha beta T cell morphology ( J:82560 )
• mutant CD4+ T cells exhibit an activated phenotype, showing increased CD69, CD44, CTLA-4 and GITR expression along with decreased expression of CD62L relative to wild-type CD4+ T cells
abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology ( J:82560 )
• at P10, male hemizygotes display a significantly reduced CD4+CD25+ regulatory T cell population in both the lymph node and thymus relative to wild-type mice (0.4% and 0.6% vs 3.0% and 3.8%, respectively)

growth/size/body
scaly ears ( J:82560 )
decreased body size ( J:82560 )
• runting is first evident at ~P12
enlarged spleen ( J:82560 )
• at P21, male hemizygotes exhibit an extremely enlarged spleen

craniofacial

hearing/vestibular/ear

integument
skin inflammation ( J:82560 )
• skin inflammation on the ears and tail, first evident at ~P12
scaly skin ( J:82560 )
• scaly skin on the ears and tail, frist evident at ~P12




Genotype
MGI:3699150
ot5
Allelic
Composition		 Foxp3tm1.1Ayr/Y
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxp3tm1.1Ayr mutation (0 available); any Foxp3 mutation (58 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hematopoietic system
enlarged spleen ( J:117743 )
• observed in 3-week old mutants

immune system
enlarged spleen ( J:117743 )
• observed in 3-week old mutants
lymph node inflammation ( J:117743 )
• observed in 3-week old mutants
liver inflammation ( J:117743 )
• massive lymphocytic and mononuclear infiltrates in liver sinusoids seen at 3 weeks
lung inflammation ( J:117743 )
• massive lymphocytic and mononuclear infiltrates in lung interstitium seen at 3 weeks
dermatitis ( J:117743 )
• massive lymphocytic and mononuclear infiltrates in epidermis seen at 3 weeks in hemizygous males; not seen in control littermates

liver/biliary system
liver inflammation ( J:117743 )
• massive lymphocytic and mononuclear infiltrates in liver sinusoids seen at 3 weeks

respiratory system
lung inflammation ( J:117743 )
• massive lymphocytic and mononuclear infiltrates in lung interstitium seen at 3 weeks

integument
dermatitis ( J:117743 )
• massive lymphocytic and mononuclear infiltrates in epidermis seen at 3 weeks in hemizygous males; not seen in control littermates
scaly skin ( J:117743 )
• tail scaling is observed

growth/size/body
enlarged spleen ( J:117743 )
• observed in 3-week old mutants




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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory