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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 (58 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 (58 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




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11/12/2024
MGI 6.24 		The Jackson Laboratory