About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Foxp3tm3Tch
targeted mutation 3, Talal A Chatila
MGI:3707723
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
 		Foxp3tm3Tch/Foxp3+ C.129X1-Foxp3tm3Tch MGI:3707957
ot2
 		Foxp3tm3Tch/Y C.129X1-Foxp3tm3Tch MGI:3707956


Genotype
MGI:3707957
ht1
Allelic
Composition		 Foxp3tm3Tch/Foxp3+
Genetic
Background		 C.129X1-Foxp3tm3Tch
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxp3tm3Tch mutation (1 available); any Foxp3 mutation (55 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
mortality/aging ( J:120636 )
N
• females develop and live normally, and are free of lymphoproliferative disease

immune system
increased T cell apoptosis ( J:120636 )
• mice have a 4-fold increase in numbers of late apoptotic cells among EGFP+ CD4+ single positive thymocytes relative to controls
• EGFP+ T cells show more apoptosis than EGFP- T cells from the same mouse, or EGFP+ and EGFP-T cells from controls
decreased T cell number ( J:120636 )
• peripheral lymphoid tissues of females have fewer EGFP+ T cells than controls
decreased thymocyte number ( J:120636 )
• females have a lower percentage of EGFP+ CD4+ single positive thymocytes in the periphery compared to controls
abnormal CD4-positive, alpha-beta T cell physiology ( J:120636 )
• in response to stimulation, EGFP+ CD4+ T cells show substantial proliferation whereas cells from Foxp3tm2Tch females do not proliferate

hematopoietic system
increased T cell apoptosis ( J:120636 )
• mice have a 4-fold increase in numbers of late apoptotic cells among EGFP+ CD4+ single positive thymocytes relative to controls
• EGFP+ T cells show more apoptosis than EGFP- T cells from the same mouse, or EGFP+ and EGFP-T cells from controls
decreased T cell number ( J:120636 )
• peripheral lymphoid tissues of females have fewer EGFP+ T cells than controls
decreased thymocyte number ( J:120636 )
• females have a lower percentage of EGFP+ CD4+ single positive thymocytes in the periphery compared to controls
abnormal CD4-positive, alpha-beta T cell physiology ( J:120636 )
• in response to stimulation, EGFP+ CD4+ T cells show substantial proliferation whereas cells from Foxp3tm2Tch females do not proliferate

cellular
increased T cell apoptosis ( J:120636 )
• mice have a 4-fold increase in numbers of late apoptotic cells among EGFP+ CD4+ single positive thymocytes relative to controls
• EGFP+ T cells show more apoptosis than EGFP- T cells from the same mouse, or EGFP+ and EGFP-T cells from controls

endocrine/exocrine glands
decreased thymocyte number ( J:120636 )
• females have a lower percentage of EGFP+ CD4+ single positive thymocytes in the periphery compared to controls




Genotype
MGI:3707956
ot2
Allelic
Composition		 Foxp3tm3Tch/Y
Genetic
Background		 C.129X1-Foxp3tm3Tch
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxp3tm3Tch mutation (1 available); any Foxp3 mutation (55 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
postnatal lethality, complete penetrance ( J:120636 )
• hemizygous males develop lymphoproliferative disease with median survival of about 15 days of age, similar to Foxp3tm1Tch males

immune system
colitis ( J:120636 )
• upon transfer of EGFP+ CD4+ T cells from males into SCID hosts, recipients develop colitis within 6-8 weeks
abnormal T cell subpopulation ratio ( J:120636 )
• frequency of EGFP+ thymocytes is higher in subpopulations than in control Foxp3tm1Tch males
• mice show 3-fold increase in percentage of double positive thymocytes and 2-fold greater numbers of EGFP+ CD4+ single-positive thymocytes
abnormal CD4-positive, alpha beta T cell morphology ( J:120636 )
• EGFP+ CD4+ T cells in spleens and lymph nodes are present in larger absolute numbers and as a larger fraction of CD4+ T cell population relative to controls
• EGFP+ CD4+ T cells are increased in tissues involved in the autoimmune lymphoproliferative disorder in males
increased T cell proliferation ( J:120636 )
• EGFP+ CD4+ T cells in 15 day old males show higher incorporation of BrdU in the peripheral lymphoid tissues and infiltrated organs than EGFP- CD4+ T cells
abnormal CD4-positive, alpha-beta T cell physiology ( J:120636 )
• EGFP+ CD4+ T cells express surface markers characteristic of Treg cells and produce little Il2 and more Il4 and IFNgamma
• EGFP+ CD4+ T cells lack typical regulatory T cell suppressor functions
abnormal regulatory T cell physiology ( J:120636 )
• EGFP+ CD4+ T cells express surface markers characteristic of Treg cells and produce little Il2 and more Il4 and IFNgamma, but EGFP+ CD4+ T cells lack typical regulatory T cell suppressor functions
thymus hypoplasia ( J:120636 )
• total thymic cellularity (63 x 106) is lower than that of control Foxp3tm1Tch males (112 x 106 cells)
enlarged spleen ( J:120636 )
• males display splenomegaly at ~15 days of age
enlarged lymph nodes ( J:120636 )
• males display lymphoadenopathy at ~15 days of age
abnormal cytokine secretion ( J:120636 )
• EGFP+ T cells exhibit higher production of TH1 and TH2 cytokines than EGFP- cells; most EGFP+ T cells produce Il4 or IFNgamma

hematopoietic system
thymus hypoplasia ( J:120636 )
• total thymic cellularity (63 x 106) is lower than that of control Foxp3tm1Tch males (112 x 106 cells)
enlarged spleen ( J:120636 )
• males display splenomegaly at ~15 days of age
abnormal T cell subpopulation ratio ( J:120636 )
• frequency of EGFP+ thymocytes is higher in subpopulations than in control Foxp3tm1Tch males
• mice show 3-fold increase in percentage of double positive thymocytes and 2-fold greater numbers of EGFP+ CD4+ single-positive thymocytes
abnormal CD4-positive, alpha beta T cell morphology ( J:120636 )
• EGFP+ CD4+ T cells in spleens and lymph nodes are present in larger absolute numbers and as a larger fraction of CD4+ T cell population relative to controls
• EGFP+ CD4+ T cells are increased in tissues involved in the autoimmune lymphoproliferative disorder in males
increased T cell proliferation ( J:120636 )
• EGFP+ CD4+ T cells in 15 day old males show higher incorporation of BrdU in the peripheral lymphoid tissues and infiltrated organs than EGFP- CD4+ T cells
abnormal CD4-positive, alpha-beta T cell physiology ( J:120636 )
• EGFP+ CD4+ T cells express surface markers characteristic of Treg cells and produce little Il2 and more Il4 and IFNgamma
• EGFP+ CD4+ T cells lack typical regulatory T cell suppressor functions
abnormal regulatory T cell physiology ( J:120636 )
• EGFP+ CD4+ T cells express surface markers characteristic of Treg cells and produce little Il2 and more Il4 and IFNgamma, but EGFP+ CD4+ T cells lack typical regulatory T cell suppressor functions

digestive/alimentary system
colitis ( J:120636 )
• upon transfer of EGFP+ CD4+ T cells from males into SCID hosts, recipients develop colitis within 6-8 weeks

endocrine/exocrine glands
thymus hypoplasia ( J:120636 )
• total thymic cellularity (63 x 106) is lower than that of control Foxp3tm1Tch males (112 x 106 cells)

cellular
increased T cell proliferation ( J:120636 )
• EGFP+ CD4+ T cells in 15 day old males show higher incorporation of BrdU in the peripheral lymphoid tissues and infiltrated organs than EGFP- CD4+ T cells

growth/size/body
enlarged spleen ( J:120636 )
• males display splenomegaly at ~15 days of age




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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
04/16/2024
MGI 6.23 		The Jackson Laboratory