All Phenotypes Foxp3<sf> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Ctps1^{tm1c(KOMP)Wtsi}/Ctps1^{tm1c(KOMP)Wtsi} Tg(Cd4-cre)1Cwi/0 Foxp3^sf/Y Rag1^tm1Mom/Rag1⁺	mixed	MGI:7659107
cx2	Foxp3^sf Otc^spf/Y	involves: 129/Rl	MGI:3590072
cx3	Cd4^tm1Litt/Cd4^tm1Litt Foxp3^sf Otc^spf/Y	involves: 129/Rl * 129S2/SvPas	MGI:3590077
cx4	B2m^tm1Jae/B2m^tm1Jae Foxp3^sf Otc^spf/Y	involves: 129/Rl * 129S2/SvPas	MGI:3590073
cx5	Foxp3^sf/Foxp3^sf Tg(Rorc-EGFP)1Ebe/?	involves: C57BL/6	MGI:3829421
ot6	Foxp3^sf/Y	B6.Cg-Foxp3^sf	MGI:4881338
ot7	Foxp3^sf/Y	B6.Cg-Foxp3^sf/J	MGI:5883309
ot8	Foxp3^sf/Y	either: 129Rl.Cg-Foxp3^sf or (involves: 101/Rl * C3Hf/Rl * STOCK MR)	MGI:3589925
ot9	Foxp3^sf/Y	involves: 101/H * C3H/HeH * STOCK MR	MGI:3589971
ot10	Foxp3^sf/Y	involves: STOCK MR	MGI:3589923
ot11	Foxp3^sf/0	involves: STOCK MR	MGI:3589922
ot12	Foxp3^sf/?	Not Specified	MGI:3809806

Allelic Composition	Ctps1^{tm1c(KOMP)Wtsi}/Ctps1^{tm1c(KOMP)Wtsi} Tg(Cd4-cre)1Cwi/0 Foxp3^sf/Y Rag1^tm1Mom/Rag1⁺
Genetic Background	mixed

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctps1^{tm1c(KOMP)Wtsi} mutation (0 available); any Ctps1 mutation (46 available)
Foxp3^sf mutation (5 available); any Foxp3 mutation (58 available)
Rag1^tm1Mom mutation (49 available); any Rag1 mutation (123 available)
Tg(Cd4-cre)1Cwi mutation (10 available)

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

growth/size/body

decreased body weight ( J:348981 )

• weight does not reach control levels at 40-50 days and 60-75 days

enlarged spleen ( J:348981 )

• by day 44, mice develop enlarged spleen

endocrine/exocrine glands

thymus hypoplasia ( J:348981 )

• by day 44, thymus has reduced cellularity

immune system

decreased T cell proliferation ( J:348981 )

• both CD8+ and CD4+ T cells show a reduced capacity to expand in response to CD3/CD28 stimulation

thymus hypoplasia ( J:348981 )

• by day 44, thymus has reduced cellularity

enlarged spleen ( J:348981 )

• by day 44, mice develop enlarged spleen

decreased regulatory T cell number ( J:348981 )

• mice exhibit a deficiency in T regulatory cells (CD4+, CD25+, FoxP3+)

decreased inflammatory response ( J:348981 )

• mice show prevention of the fatal systemic autoimmune and inflammatory disease that is seen in Foxp3^sf/Y mice, with mice surviving at least up to 80 days and no presentation of scaly tails and ears, and no inflammation and tissue disruption at day 44

• values of total T cells return to normal and the accumulation of effector memory CD4+ and CD8+ T cells in the spleen that is seen in single Foxp3/Y mice is reduced

hematopoietic system

decreased T cell proliferation ( J:348981 )

• both CD8+ and CD4+ T cells show a reduced capacity to expand in response to CD3/CD28 stimulation

thymus hypoplasia ( J:348981 )

• by day 44, thymus has reduced cellularity

enlarged spleen ( J:348981 )

• by day 44, mice develop enlarged spleen

decreased regulatory T cell number ( J:348981 )

• mice exhibit a deficiency in T regulatory cells (CD4+, CD25+, FoxP3+)

cellular

decreased T cell proliferation ( J:348981 )

• both CD8+ and CD4+ T cells show a reduced capacity to expand in response to CD3/CD28 stimulation

Allelic Composition	Foxp3^sf Otc^spf/Y
Genetic Background	involves: 129/Rl

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxp3^sf mutation (5 available); any Foxp3 mutation (58 available)
Otc^spf mutation (9 available); any Otc mutation (22 available)

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

mortality/aging

premature death ( J:20865 )

• anti-CD4 antibody treated (to delete CD4+ T cells) mice survive longer than untreated or anti-CD8 antibody treated mutant mice, to an average of 55 days

postnatal lethality, incomplete penetrance ( J:20865 )

• most untreated and anti-CD8 antibody treated (to delete CD8+ T cells) mice die before day 15 due to scurfy disease

growth/size/body

decreased body weight ( J:20865 )

• decreased body weight in untreated and anti-CD8 antibody treated mutants but not in anti-CD4 antibody treated mutants at day 15

enlarged spleen ( J:20865 )

• untreated and anti-CD8 antibody treated mice that survive past 15 days of age exhibit splenomegaly

immune system

enlarged spleen ( J:20865 )

• untreated and anti-CD8 antibody treated mice that survive past 15 days of age exhibit splenomegaly

increased CD4-positive, alpha-beta T cell number ( J:20865 )

• significantly greater number of activated CD4+CD44+ T cells in the lymph nodes of both untreated and anti-CD8 antibody treated mutant mice

enlarged lymph nodes ( J:20865 )

• untreated and anti-CD8 antibody treated mice that survive past 15 days of age exhibit lymphadenopathy

hematopoietic system

enlarged spleen ( J:20865 )

• untreated and anti-CD8 antibody treated mice that survive past 15 days of age exhibit splenomegaly

anemia ( J:20865 )

• anti-CD8 antibody treated mutant mice exhibit decreased anemia than untreated mutant mice, although both develop anemia

decreased hematocrit ( J:20865 )

• untreated and anti-CD8 antibody treated mutants, but not anti-CD4 antibody treated mutants, exhibit decreased hematocrit at day 15

increased CD4-positive, alpha-beta T cell number ( J:20865 )

• significantly greater number of activated CD4+CD44+ T cells in the lymph nodes of both untreated and anti-CD8 antibody treated mutant mice

integument

skin lesions ( J:20865 )

• untreated and anti-CD8 antibody treated mutants develop skin lesions typical of scurfy disease, while anti-CD4 antibody treated mutants exhibit dramatically reduced lesions

Allelic Composition	Cd4^tm1Litt/Cd4^tm1Litt Foxp3^sf Otc^spf/Y
Genetic Background	involves: 129/Rl * 129S2/SvPas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cd4^tm1Litt mutation (4 available); any Cd4 mutation (85 available)
Foxp3^sf mutation (5 available); any Foxp3 mutation (58 available)
Otc^spf mutation (9 available); any Otc mutation (22 available)

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

mortality/aging

premature death ( J:20865 )

• signs of scurfy disease are delayed and are first seen at 4 weeks of age, with mutants dying at about 6 weeks of age

immune system

abnormal CD8-positive, alpha beta T cell morphology ( J:20865 )

• increase in the percentage of CD4-CD8+CD44+ and CD4-CD8+CD45RB^dull T cells compared to homozygous CD4 mice at 15 days of age

• decrease in the percentage of CD4-CD8+ T cells in aged mutants compared with aged homozygous CD4 mice

increased IgG level ( J:20865 )

• increased IgG in 35 day or older mutants, but not in 15 day old mutants

increased IgM level ( J:20865 )

• increased IgM in 35 day or older mutants, but not in 15 day old mutants

abnormal immune system organ morphology ( J:20865 )

• lymphoid organs in 15 day old mutants have typical scurfy lesions in T cell areas, but quiescent B cell areas

enlarged lymph nodes ( J:20865 )

• lymph nodes are normal size at day 15 but are enlarged by day 35

abnormal cytokine secretion ( J:20865 )

increased interleukin-4 secretion ( J:20865 )

• increased IL-4 production in response to Con A stimulation in aged (P45), but not young (P16) mice, compared to homozygous Cd4 mutant mice

increased interleukin-6 secretion ( J:20865 )

• increased IL-6 production in response to Con A stimulation in aged (P45), but not young (P16) mice, compared to homozygous Cd4 mutant mice

increased tumor necrosis factor secretion ( J:20865 )

• increased TNF-alpha production in response to Con A stimulation in aged (P45), but not young (P16) mice, compared to homozygous Cd4 mutant mice

hematopoietic system

abnormal CD8-positive, alpha beta T cell morphology ( J:20865 )

• increase in the percentage of CD4-CD8+CD44+ and CD4-CD8+CD45RB^dull T cells compared to homozygous CD4 mice at 15 days of age

• decrease in the percentage of CD4-CD8+ T cells in aged mutants compared with aged homozygous CD4 mice

increased IgG level ( J:20865 )

• increased IgG in 35 day or older mutants, but not in 15 day old mutants

increased IgM level ( J:20865 )

• increased IgM in 35 day or older mutants, but not in 15 day old mutants

Allelic Composition	B2m^tm1Jae/B2m^tm1Jae Foxp3^sf Otc^spf/Y
Genetic Background	involves: 129/Rl * 129S2/SvPas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Jae mutation (8 available); any B2m mutation (122 available)
Foxp3^sf mutation (5 available); any Foxp3 mutation (58 available)
Otc^spf mutation (9 available); any Otc mutation (22 available)

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

growth/size/body

decreased body size ( J:20865 )

enlarged spleen ( J:20865 )

immune system

increased plasma cell number ( J:20865 )

• plasma cell hyperplasia within the spleen and lymph nodes

increased CD4-positive, alpha-beta T cell number ( J:20865 )

• greater percentage of CD45RB^dullCD4+ T cells than in homozygous B2m mice

increased immunoglobulin level ( J:20865 )

increased IgG level ( J:20865 )

increased IgM level ( J:20865 )

abnormal interleukin level ( J:20865 )

• increased amounts of IL-4, IL-6, and IL-10 and decreased amounts of IL-2 in Con A stimulated day 16 splenocytes

abnormal tumor necrosis factor level ( J:20865 )

• decreased amount of TNF-alpha in Con A stimulated day 16 splenocytes

abnormal immune system organ morphology ( J:20865 )

enlarged spleen ( J:20865 )

abnormal lymph node morphology ( J:20865 )

• complete disruption of normal architecture, with abundant lymphoblasts and reticular cell hyperplasia

enlarged lymph nodes ( J:20865 )

dermatitis ( J:20865 )

• exfoliative dermatitis

hematopoietic system

enlarged spleen ( J:20865 )

anemia ( J:20865 )

decreased hematocrit ( J:20865 )

increased plasma cell number ( J:20865 )

• plasma cell hyperplasia within the spleen and lymph nodes

increased CD4-positive, alpha-beta T cell number ( J:20865 )

• greater percentage of CD45RB^dullCD4+ T cells than in homozygous B2m mice

increased immunoglobulin level ( J:20865 )

increased IgG level ( J:20865 )

increased IgM level ( J:20865 )

homeostasis/metabolism

abnormal interleukin level ( J:20865 )

• increased amounts of IL-4, IL-6, and IL-10 and decreased amounts of IL-2 in Con A stimulated day 16 splenocytes

abnormal tumor necrosis factor level ( J:20865 )

• decreased amount of TNF-alpha in Con A stimulated day 16 splenocytes

integument

dermatitis ( J:20865 )

• exfoliative dermatitis

Allelic Composition	Foxp3^sf/Foxp3^sf Tg(Rorc-EGFP)1Ebe/?
Genetic Background	involves: C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxp3^sf mutation (5 available); any Foxp3 mutation (58 available)
Tg(Rorc-EGFP)1Ebe mutation (0 available)

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

hematopoietic system

abnormal effector T cell morphology ( J:137020 )

• mutant bone marrow cells fail to generate IL-10 producing T cells and generates only a reduced proportion of IL-17-producing T cells when marrow cells are transferred into irradiated wild-type hosts

immune system

abnormal effector T cell morphology ( J:137020 )

Allelic Composition	Foxp3^sf/Y
Genetic Background	B6.Cg-Foxp3^sf

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxp3^sf mutation (5 available); any Foxp3 mutation (58 available)

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

hematopoietic system

decreased megakaryocyte cell number ( J:167802 )

• mutants exhibit about 4-fold less mature bone marrow megakaryocytes than controls

abnormal megakaryocyte progenitor cell morphology ( J:167802 )

• mutants exhibit about a 50% reduction in megakaryocyte progenitors

thrombocytopenia ( J:167802 )

• mutants exhibit up to 53% fewer platelets than controls

increased mean platelet volume ( J:167802 )

abnormal CD4-positive, alpha beta T cell morphology ( J:82560 )

decreased CD4-positive, CD25-positive, alpha-beta regulatory T cell number ( J:82560 )

• at 10 days of age there are significantly fewer CD4⁺ CD25⁺ T cells in the lymph nodes and thymus compared with controls and transfer of CD4⁺ CD25⁺ T cells from wild-type donors into 1- to 2-day old hemizygous pups rescues the disease phenotype

abnormal CD4-positive, alpha-beta T cell physiology ( J:82560 )

• CD4⁺ CD25⁺ T cells from 28 day old lymph nodes proliferate abnormally in response to TCR stimulation and fail to provide suppressor activity

• transfer of CD4⁺ T cells from hemizygotes into RAG1 deficient hosts transfers the wasting disease and colitis and co-transfer of CD4⁺ CD25⁺ from wild-type donors prevents the development of this disease

homeostasis/metabolism

abnormal homeostasis ( J:167802 )

• mutants exhibit reduced serum levels of TGF-beta and increased serum levels of CD40L, TXB2, and 12(S)-HETE, suggesting altered platelet release

immune system

abnormal CD4-positive, alpha beta T cell morphology ( J:82560 )

decreased CD4-positive, CD25-positive, alpha-beta regulatory T cell number ( J:82560 )

abnormal CD4-positive, alpha-beta T cell physiology ( J:82560 )

• CD4⁺ CD25⁺ T cells from 28 day old lymph nodes proliferate abnormally in response to TCR stimulation and fail to provide suppressor activity

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		DOID:0090110	OMIM:304790	J:167802

Allelic Composition	Foxp3^sf/Y
Genetic Background	B6.Cg-Foxp3^sf/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxp3^sf mutation (5 available); any Foxp3 mutation (58 available)

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

digestive/alimentary system

salivary gland inflammation ( J:125129 )

• transfer of mutant lymph node cells to RAG-1 knock-out mice induces severe inflammation in the salivary glands and loss of salivary function

• feeding mutants with a TLR agonist, LPS, induces inflammation in the salivary glands

endocrine/exocrine glands

salivary gland inflammation ( J:125129 )

• transfer of mutant lymph node cells to RAG-1 knock-out mice induces severe inflammation in the salivary glands and loss of salivary function

• feeding mutants with a TLR agonist, LPS, induces inflammation in the salivary glands

immune system

salivary gland inflammation ( J:125129 )

• transfer of mutant lymph node cells to RAG-1 knock-out mice induces severe inflammation in the salivary glands and loss of salivary function

• feeding mutants with a TLR agonist, LPS, induces inflammation in the salivary glands

lung inflammation ( J:125129 )

• severe lung inflammation

• however, salivary gland or lacrimal gland inflammation is not seen

skin inflammation ( J:125129 )

integument

skin inflammation ( J:125129 )

respiratory system

lung inflammation ( J:125129 )

• severe lung inflammation

• however, salivary gland or lacrimal gland inflammation is not seen

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

mortality/aging

premature death ( J:11262 )

• mean lifespan is about 24 days although a few survive to 30-39 days of age

growth/size/body

enlarged heart ( J:11262 )

• severely anemic mice may exhibit cardiomegaly

scaly ears ( J:11262 )

• crusting of the ears by 14-15 days of age

small ears ( J:11262 )

• ears are small and sometimes folded

thick ears ( J:11262 )

decreased body size ( J:11262 )

cachexia ( J:11262 )

distended abdomen ( J:11262 )

• swollen abdomen

enlarged liver ( J:11262 )

increased spleen weight ( J:11262 )

• spleen weights are 2-4 times those of controls

vision/eye

blepharitis ( J:11262 )

• scaliness on eyelids that seals the palpebral fissure

hearing/vestibular/ear

scaly ears ( J:11262 )

• crusting of the ears by 14-15 days of age

small ears ( J:11262 )

• ears are small and sometimes folded

thick ears ( J:11262 )

reproductive system

abnormal male reproductive system morphology ( J:11262 )

• swelling and reddening of the genital papilla at 12-14 days of age

small testis ( J:11262 )

cryptorchism ( J:11262 )

• testicles are retained in the abdominal cavity

immune system

abnormal thymus morphology ( J:11262 )

abnormal thymus cortex morphology ( J:11262 )

• the thymic cortex is rapidly depleted of lymphocytes over time

small thymus ( J:11262 )

• a bilobed thymus is present but extremely small and is densely populated with lymphocytes

increased leukocyte cell number ( J:11262 )

abnormal lymphocyte morphology ( J:11262 )

• exhibit lymphoproliferative lesions

abnormal macrophage morphology ( J:11262 )

• mild to moderate sinus histiocytosis in the lymph nodes

abnormal spleen morphology ( J:11262 )

• lesions in the spleen

increased spleen weight ( J:11262 )

• spleen weights are 2-4 times those of controls

increased spleen red pulp amount ( J:11262 )

• massively expanded by hematopoietic cells

abnormal spleen white pulp morphology ( J:11262 )

• white pulp may be enlarged or shrunken and is composed of blastlike mononuclear cells with vesicular nuclei, prominent reticulum cells, lymphoblasts, and variable number of plasma cells

• occasional erythrophagocytic macrophages and plasma cells with Russel's bodies can be seen at the margins of the white pulp

decreased spleen B cell follicle number ( J:11262 )

• follicles are lacking and lymphocytes are absent in the spleen

absent spleen marginal zone ( J:11262 )

• distinct marginal zones are lacking

abnormal B cell physiology ( J:11262 )

• IgA synthesis is precocious, detectable at P21 unlike in controls

increased IgG level ( J:11262 )

• apparent as early as 10 days of age and ranges from 2-10 times the concentration in controls

increased IgM level ( J:11262 )

abnormal lymph node morphology ( J:11262 )

• lesions in the lymph nodes that contain a randomly distributed mixture of lymphoblasts, blastlike mononuclear cells with vesicular nuclei, hypertrophic reticulum cells, macrophages, and granulocytes instead of small lymphocytes

• complete loss of normal architecture

abnormal lymph node B cell domain morphology ( J:11262 )

• lack of discernible follicles

abnormal lymph node T cell domain morphology ( J:11262 )

• no distinct paracortex

abnormal lymph node medullary cord morphology ( J:11262 )

• thickening of the medullary cords

enlarged lymph nodes ( J:11262 )

• subcutaneous lymph nodes such as inguinal, axillary, and cervical nodes and consistently enlarged while visceral lymph nodes are slightly or moderately enlarged

increased inflammatory response ( J:11262 )

• perivascular infiltrates of mixed mononuclear cells and granulocytes are seen in heart, pancreas, lung, salivary gland, kidney, and mesenteries

blepharitis ( J:11262 )

• scaliness on eyelids that seals the palpebral fissure

liver inflammation ( J:11262 )

• leukocytic infiltrations are present in the portal areas of the liver

dermatitis ( J:11262 )

• a diffuse lymphohistiocytic infiltration of the entire dermis that is most severe in the prepuce, ears, eyelids and facial skin

hematopoietic system

abnormal thymus morphology ( J:11262 )

abnormal thymus cortex morphology ( J:11262 )

• the thymic cortex is rapidly depleted of lymphocytes over time

small thymus ( J:11262 )

• a bilobed thymus is present but extremely small and is densely populated with lymphocytes

extramedullary hematopoiesis ( J:11262 )

• abundant hematopoiesis in the hepatic sinusoids, spleen and bone marrow

anemia ( J:11262 )

abnormal erythrocyte morphology ( J:11262 )

decreased hematocrit ( J:11262 )

• mean hematocrit values are about one half those of controls

decreased hemoglobin content ( J:11262 )

• mean hemoglobin volumes are about one half those of controls

increased mean corpuscular volume ( J:11262 )

anisocytosis ( J:11262 )

poikilocytosis ( J:11262 )

polychromatophilia ( J:11262 )

increased leukocyte cell number ( J:11262 )

abnormal lymphocyte morphology ( J:11262 )

• exhibit lymphoproliferative lesions

abnormal macrophage morphology ( J:11262 )

• mild to moderate sinus histiocytosis in the lymph nodes

abnormal spleen morphology ( J:11262 )

• lesions in the spleen

increased spleen weight ( J:11262 )

• spleen weights are 2-4 times those of controls

increased spleen red pulp amount ( J:11262 )

• massively expanded by hematopoietic cells

abnormal spleen white pulp morphology ( J:11262 )

• white pulp may be enlarged or shrunken and is composed of blastlike mononuclear cells with vesicular nuclei, prominent reticulum cells, lymphoblasts, and variable number of plasma cells

• occasional erythrophagocytic macrophages and plasma cells with Russel's bodies can be seen at the margins of the white pulp

decreased spleen B cell follicle number ( J:11262 )

• follicles are lacking and lymphocytes are absent in the spleen

absent spleen marginal zone ( J:11262 )

• distinct marginal zones are lacking

abnormal B cell physiology ( J:11262 )

• IgA synthesis is precocious, detectable at P21 unlike in controls

increased IgG level ( J:11262 )

• apparent as early as 10 days of age and ranges from 2-10 times the concentration in controls

increased IgM level ( J:11262 )

liver/biliary system

liver inflammation ( J:11262 )

• leukocytic infiltrations are present in the portal areas of the liver

abnormal liver morphology ( J:11262 )

• lesions in the liver

• occasionally livers have marked erythrophagocytosis or hemosiderin deposits in Kupffer cells

dilated liver sinusoidal space ( J:11262 )

enlarged liver ( J:11262 )

abnormal hepatic cord morphology ( J:11262 )

• centrolobular hepatic cords are atrophied

multifocal hepatic necrosis ( J:11262 )

• many mice have a thin, sharply demarcated rim of necrosis along the margins of the liver

• areas of acute coagulative necrosis without inflammation are present at the tips of liver lobes

jaundice ( J:11262 )

• severely anemic mice may exhibit slight icterus

homeostasis/metabolism

abnormal atrial thrombosis ( J:11262 )

• occasionally see acute right atrial thrombosis

pleural effusion ( J:11262 )

• severely anemic mice may exhibit pleural effusion

hemosiderosis ( J:11262 )

• occasionally livers have marked hemosiderin deposits in Kupffer cells

renal/urinary system

pale kidney ( J:11262 )

behavior/neurological

hunched posture ( J:11262 )

cardiovascular system

dilated liver sinusoidal space ( J:11262 )

enlarged heart ( J:11262 )

• severely anemic mice may exhibit cardiomegaly

endocrine/exocrine glands

abnormal thymus morphology ( J:11262 )

abnormal thymus cortex morphology ( J:11262 )

• the thymic cortex is rapidly depleted of lymphocytes over time

small thymus ( J:11262 )

• a bilobed thymus is present but extremely small and is densely populated with lymphocytes

small testis ( J:11262 )

cryptorchism ( J:11262 )

• testicles are retained in the abdominal cavity

craniofacial

scaly ears ( J:11262 )

• crusting of the ears by 14-15 days of age

small ears ( J:11262 )

• ears are small and sometimes folded

thick ears ( J:11262 )

integument

dermatitis ( J:11262 )

• a diffuse lymphohistiocytic infiltration of the entire dermis that is most severe in the prepuce, ears, eyelids and facial skin

abnormal epidermal layer morphology ( J:11262 )

• occasionally see intraepidermal pustules

orthokeratosis ( J:11262 )

• moderate to severe orthokeratotic hyperkeratosis

parakeratosis ( J:11262 )

• multifocal parakeratosis

epidermal hyperplasia ( J:11262 )

scaly skin ( J:11262 )

• by 14-15 days of age, ears, feet, tail and eyelids are scaly

• scales on base of tail may form thick circumferential rings

skin lesions ( J:11262 )

• apparent at 7 days of age

abnormal tail ring morphology ( J:11262 )

• scales on base of tail may form thick circumferential rings

respiratory system

pleural effusion ( J:11262 )

• severely anemic mice may exhibit pleural effusion

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		DOID:0090110	OMIM:304790	J:66734
NOT	X-linked ichthyosis	DOID:1700	OMIM:308100	J:11262

Allelic Composition	Foxp3^sf/Y
Genetic Background	involves: 101/H * C3H/HeH * STOCK MR

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxp3^sf mutation (5 available); any Foxp3 mutation (58 available)

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

mortality/aging

lethality at weaning, complete penetrance ( J:10398 )

• death occurs as early as P18 and most die between 19 and 22 days, although a few survive to 30 days

growth/size/body

small ears ( J:10398 )

decreased body size ( J:10398 )

decreased body weight ( J:10398 )

postnatal growth retardation ( J:10398 )

• from 14-18 days there is a marked retardation of growth although animals are normal in size before then

enlarged liver ( J:10398 )

increased spleen weight ( J:10398 )

• about four times the normal weight

vision/eye

conjunctivitis ( J:10398 )

narrow eye opening ( J:10398 )

• closed eyelids in almost all 14 day or older mice due to conjunctivitis

• eyelid aperature is small

hearing/vestibular/ear

small ears ( J:10398 )

reproductive system

short perineum ( J:10398 )

abnormal male reproductive system morphology ( J:10398 )

• reddening and swelling of the genital papilla at P12-14

cryptorchism ( J:10398 )

• testes are abdominal or inguinal

absent scrotum ( J:10398 )

small gonad ( J:10398 )

• reproductive structures are extremely underdeveloped

immune system

increased leukocyte cell number ( J:10398 )

abnormal spleen morphology ( J:10398 )

increased spleen weight ( J:10398 )

• about four times the normal weight

increased spleen red pulp amount ( J:10398 )

• hyperplasia of the red pulp

intermingled spleen red and white pulp ( J:10398 )

• architecture of the spleen is disrupted, with white and red pulp intermingling

increased spleen white pulp amount ( J:10398 )

• hyperplasia of the white pulp

conjunctivitis ( J:10398 )

hematopoietic system

extramedullary hematopoiesis ( J:10398 )

• persistence of hematopoiesis in the liver

anemia ( J:10398 )

• become pale and anemic 2-3 days before death

decreased megakaryocyte cell number ( J:10398 )

• depletion of the number of megakaryocytes with age in the bone marrow

• megakaryocytes are reduced at 13 days of age, more reduced at 17 days of age, and almost absent from the spleen at 20 days of age

abnormal erythrocyte morphology ( J:10398 )

decreased erythrocyte cell number ( J:10398 )

• low at birth and decrease as disease progresses

decreased hematocrit ( J:10398 )

decreased hemoglobin content ( J:10398 )

• older animals exhibit hypochromic red blood cells

thrombocytopenia ( J:10398 )

• low at birth and decrease as disease progresses

increased leukocyte cell number ( J:10398 )

abnormal reticulocyte morphology ( J:10398 )

• increased reticulocyte count

abnormal spleen morphology ( J:10398 )

increased spleen weight ( J:10398 )

• about four times the normal weight

increased spleen red pulp amount ( J:10398 )

• hyperplasia of the red pulp

intermingled spleen red and white pulp ( J:10398 )

• architecture of the spleen is disrupted, with white and red pulp intermingling

increased spleen white pulp amount ( J:10398 )

• hyperplasia of the white pulp

liver/biliary system

abnormal liver morphology ( J:10398 )

• liver is dotted with yellow foci in some animals, suggesting infection

enlarged liver ( J:10398 )

pale liver ( J:10398 )

renal/urinary system

pale kidney ( J:10398 )

behavior/neurological

lethargy ( J:10398 )

• become lethargic the day before death

cardiovascular system

gastrointestinal hemorrhage ( J:10398 )

digestive/alimentary system

gastrointestinal hemorrhage ( J:10398 )

diarrhea ( J:10398 )

• some mice have diarrhea from the age of 14-15 days

melena ( J:10398 )

• blood in feces is seen 2-3 days before death

short perineum ( J:10398 )

respiratory system

abnormal breathing pattern ( J:10398 )

endocrine/exocrine glands

cryptorchism ( J:10398 )

• testes are abdominal or inguinal

craniofacial

small ears ( J:10398 )

integument

scaly skin ( J:10398 )

• first visible on the underside of the tail and later on other body parts

tight skin ( J:10398 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Wiskott-Aldrich syndrome		DOID:9169	OMIM:301000	J:10398

Allelic Composition	Foxp3^sf/Y
Genetic Background	involves: STOCK MR

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxp3^sf mutation (5 available); any Foxp3 mutation (58 available)

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

mortality/aging

premature death ( J:13126 )

• the vast majority of mice that live past weaning die shortly thereafter

postnatal lethality ( J:13126 )

• 2/3 die before weaning and most of the rest shortly after weaning, though occasionally can live for several months

growth/size/body

decreased body size ( J:13126 )

• the few mice that live to adulthood are runty

reproductive system

abnormal male reproductive system morphology ( J:13126 )

• reddening of the genital papilla at P11

absent prostate gland anterior lobe ( J:14076 )

absent seminal vesicle ( J:14076 )

cryptorchism ( J:14076 )

• testes are abdominal

absent scrotum ( J:14076 )

small gonad ( J:14076 )

small testis ( J:14076 )

male infertility ( J:13126 , J:14076 )

• the few mice that live to adulthood are infertile (J:13126)

(J:14076)

vision/eye

delayed eyelid opening ( J:13126 )

• eyelids are delayed in opening

endocrine/exocrine glands

absent prostate gland anterior lobe ( J:14076 )

absent seminal vesicle ( J:14076 )

small testis ( J:14076 )

cryptorchism ( J:14076 )

• testes are abdominal

integument

scaly skin ( J:13126 , J:14076 )

• first the tail, and then other parts of the body exhibit scaliness (J:13126)

• exhibit ichythosis (J:14076)

tight skin ( J:13126 )

• mice also have tight skin

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	X-linked ichthyosis	DOID:1700	OMIM:308100	J:14076

Allelic Composition	Foxp3^sf/0
Genetic Background	involves: STOCK MR

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxp3^sf mutation (5 available); any Foxp3 mutation (58 available)

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

mortality/aging

postnatal lethality ( J:13126 )

• female mice that only have one X chromosome that carries this mutation die before being able to reproduce

vision/eye

delayed eyelid opening ( J:13126 )

• eyelids are delayed in opening

integument

scaly skin ( J:13126 )

• first the tail, and then other parts of the body exhibit scaliness

tight skin ( J:13126 )

• mice also have tight skin

Allelic Composition	Foxp3^sf/?
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxp3^sf mutation (5 available); any Foxp3 mutation (58 available)

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

immune system

liver inflammation ( J:138808 )

• tissue displays extensive mononuclear cell infiltration

lung inflammation ( J:138808 )

• tissue displays extensive mononuclear cell infiltration

• tissue has dense predominantly peribronchovascular infiltrates, composed of CD4+ and Cd8+ T cells

liver/biliary system

liver inflammation ( J:138808 )

• tissue displays extensive mononuclear cell infiltration

respiratory system

lung inflammation ( J:138808 )

• tissue displays extensive mononuclear cell infiltration

• tissue has dense predominantly peribronchovascular infiltrates, composed of CD4+ and Cd8+ T cells

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 12/10/2024 MGI 6.24