Overview

Also Known As: B6-scurfy

Scurfy mice have defective T cell tolerance leading to an X-linked lymphoproliferative disease that parallels the X-linked autoimmunity-allergic disregulation syndrome (XLAAD) in humans. Hemizygous males are characterized by runting, scaly, crusty skin on the eyelids, ears and tails, dermal thickening, squinted eyes, cachexia, reddening and swelling of the genital papilla, and small testicles that are retained in the abdominal cavity. Homozygous scurfy females develop the same disease phenotype seen in hemizygous males, but they have a normal reproductive tract.

Genetic overview

Genetic Background	Generation
000664 C57BL/6J

Foxp3^sf

Allele Type	Gene Symbol	Gene Name
Spontaneous	Foxp3	forkhead box P3

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Research Applications

Dermatology Research
Developmental Biology Research
Endocrine Deficiency Research
Hematological Research
Mouse/Human Gene Homologs
Immunology, Inflammation and Autoimmunity Research
Cell Biology Research
Internal/Organ Research

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Details

Detailed Description

Scurfy mice develop an X-linked lymphoproliferative disease resulting from defective T cell tolerance. Phenotypes associated with these mice include runting, scaly, crusty skin on the eyelids, ears and tails, dermal thickening, squinted eyes, cachexia, reddening and swelling of the genital papilla, and small testicles that are retained in the abdominal cavity. This disorder, which parallels X-linked autoimmunity-allergic disregulation syndrome (XLAAD) in humans, results in Coombs' test-positive anemia, hypergammaglobulinemia, a small, thin thymus, and lymphohistiocytic proliferation in the skin and lymphoid organs, with splenomegaly, lymphadenomegaly, and hepatomegaly. Foxp3^sf/Y males generally die by 16-25 days of age. Transgenic expression of Foxp3 prevents scurfy disease in Foxp3^sf/Y mice.

Neonatal thymectomy of scurfy males ameliorates disease and increases lifespan; athymic nude (Foxn1^nu/Foxn1^nu) Foxp3^sf/Y mice do not develop scurfy. While Cd4⁺ peripheral T cells from scurfy mice can transfer the scurfy disease phenotype to wild type, histocompatible Foxn1^nu/Foxn1^nu or Prkdc^scid/Prkdc^scid hosts, bone marrow transplantation from scurfy homozygotes fails to transfer disease. Also, neither neonatal inoculation with wild type bone marrow, nor thymic lobe transplants from wild type donors into carrier males prevents disease. Northern blot analysis of skin, lymph nodes and spleen revealed over-expression of Il2, Il4, Il5, Il10, Il6, IFNg, and TNFa; over-expression of these last three is especially high. Peripheral Cd4⁺ T cells from scurfy mice are hyper-responsive to antigen, have an activated phenotype (Cd44⁺, Cd69⁺, Cd25⁺, Cd80⁺, Cd86⁺), a decreased requirement for Cd28 co-stimulation, and a decreased sensitivity to tyrosine kinase inhibitors and cyclosporin A. Prenatal or neonatal injection with anti-Cd4 antibodies can delay the onset of disease, as can the targeted disruption of Cd4. Cd8⁺ cells do not transfer disease, and targeted disruption of B2m does not alter disease onset. Activation of peripheral T cells is necessary to initiate the scurfy pathology; Foxp3^sf/Y mice carrying a transgene for an ovalbumin-specific TCR and a targeted mutation of Rag1 fail to develop the scurfy disease phenotype until challenged with ovalbumin. Foxp3^sf homozygous females can not be generated through traditional breeding because carrier males die by 25 days of age. By breeding nude Foxp3^sf/Y males with Foxp3^sf/+ females, however, homozygous scurfy females can be generated that are heterozygous for the recessive Foxn1^nu mutation. These homozygous scurfy females develop the same disease phenotype seen in hemizygous males, but they have a normal reproductive tract.

Development

The scurfy mutation arose spontaneously at the Oak Ridge National Laboratory in 1949 in the partially inbred MR stock. This strain was a multiple recessive stock of seven mutations, primarily coat color mutations. Scurfy was maintained either by backcross onto 129/Rl-p Tyr^ch/p Tyr^c or by breeding heterozygous females to (C3H/Rl x 101/Rl)F1 or (101/Rl x C3H/Rl)F1 males at each generation to keep it on a non-inbred background. Means et al. obtained scurfy mice from Yvonne Boyd at Harwell where they were maintained by breeding to (C3H/Rl x 101/Rl)F1. Means et al. backcrossed Foxp3^sf/+ females to C57BL/6NTac males. In 2001 The Jackson Laboratory received N8 mice and backcrossed to C57BL/6J. (Russell et al., 1959; Godfrey et al., 1991; Means et al., 2000.)

Control Suggestions

Wild-type from the colony
000664 C57BL/6J

Additional Information

Considerations for Choosing Controls

Genetics

Foxp3^sf

Allele Symbol: Foxp3^sf

Allele Name	scurfy
Allele Type	Spontaneous
Allele Synonym(s)	scurfy; Foxp3^sf
Gene Symbol and Name	Foxp3, forkhead box P3
Gene Synonym(s)	AIID; sf; DIETER; IPEX; PIDX; scurfin; XPID; JM2; scurfy; RGD1562112
Strain of Origin	STOCK MR
Chromosome	X
Molecular Note	Insertion of two adenosine residues into exon 8, resulting in a 2 bp shift in the reading frame. This allele is predicted to produce a truncated protein lacking the carboxy-terminal forkhead domain.

Disease/Phenotype

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome

Model with phenotypic similarity to human disease where etiologies are distinct. Human genes are associated with this disease. Orthologs of these genes do not appear in the mouse genotype(s).

Wiskott-Aldrich syndrome

No similarity to the expected human disease phenotype was found. One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of these genes, but the phenotype did not resemble the disease.

X-linked ichthyosis

Research Areas By Genotype

This mouse can be used to support research in many areas including:

Genotype: Foxp3^sf related

Dermatology Research
- Skin and Hair Texture Defects
Developmental Biology Research
- Craniofacial and Palate Defects
- Growth Defects
- Internal/Organ Defects
  - gonads
- Skin and Hair Texture Defects
- Postnatal Lethality
- Lymphoid Tissue Defects
Endocrine Deficiency Research
- Gonad Defects
Hematological Research
- Anemia, Iron Deficiency and Transport Defects
- Immunological Defects
Mouse/Human Gene Homologs
- IPEX/XLAAD/DMSD/XPID
Immunology, Inflammation and Autoimmunity Research
- Autoimmunity
- Lymphoid Tissue Defects
- Intracellular Signaling Molecules
- T Cell Receptor Signaling Defects
Cell Biology Research
- Transcriptional Regulation
Internal/Organ Research
- Lymphoid Tissue Defects
Reproductive Biology Research
- Developmental Defects Affecting Gonads
- Fertility Defects

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: Foxp3^sf/0
involves: STOCK MR

integument phenotype

scaly skin
- first the tail, and then other parts of the body exhibit scaliness

tight skin
- mice also have tight skin

mortality/aging

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

vision/eye phenotype

delayed eyelid opening
- eyelids are delayed in opening

Genotype: Foxp3^sf/Y
involves: STOCK MR

endocrine/exocrine gland phenotype

absent prostate gland anterior lobe

absent seminal vesicle

cryptorchism
- testes are abdominal

small testis

reproductive system phenotype

abnormal male reproductive system morphology
- reddening of the genital papilla at P11

absent prostate gland anterior lobe

absent scrotum

absent seminal vesicle

cryptorchism
- testes are abdominal

male infertility
- the few mice that live to adulthood are infertile

small gonad

small testis

vision/eye phenotype

delayed eyelid opening
- eyelids are delayed in opening

growth/size/body region phenotype

decreased body size
- the few mice that live to adulthood are runty

integument phenotype

scaly skin
- exhibit ichythosis
- first the tail, and then other parts of the body exhibit scaliness

tight skin
- mice also have tight skin

mortality/aging

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

premature death
- the vast majority of mice that live past weaning die shortly thereafter

Genotype: Foxp3^sf/Y
either: 129Rl.Cg-Foxp3 or (involves: 101/Rl * C3Hf/Rl * STOCK MR)

behavior/neurological phenotype

hunched posture

respiratory system phenotype

pleural effusion
- severely anemic mice may exhibit pleural effusion

vision/eye phenotype

blepharitis
- scaliness on eyelids that seals the palpebral fissure

growth/size/body region phenotype

cachexia

decreased body size

distended abdomen
- swollen abdomen

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

small ears
- ears are small and sometimes folded

thick ears

cardiovascular system phenotype

enlarged heart
- severely anemic mice may exhibit cardiomegaly

enlarged liver sinusoidal spaces

hearing/vestibular/ear phenotype

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

small ears
- ears are small and sometimes folded

thick ears

hematopoietic system phenotype

abnormal B cell physiology
- IgA synthesis is precocious, detectable at P21 unlike in controls

abnormal erythrocyte morphology

abnormal lymphocyte morphology
- exhibit lymphoproliferative lesions

abnormal macrophage morphology
- mild to moderate sinus histiocytosis in the lymph nodes

abnormal spleen B cell follicle morphology
- follicles are lacking and lymphocytes are absent in the spleen

abnormal spleen morphology
- lesions in the spleen

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

abnormal thymus cortex morphology
- the thymic cortex is rapidly depleted of lymphocytes over time

abnormal thymus morphology

absent spleen marginal zone
- distinct marginal zones are lacking

anemia

anisocytosis

decreased hematocrit
- mean hematocrit values are about one half those of controls

decreased hemoglobin content
- mean hemoglobin volumes are about one half those of controls

extramedullary hematopoiesis
- abundant hematopoiesis in the hepatic sinusoids, spleen and bone marrow

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

increased IgM level

increased leukocyte cell number

increased mean corpuscular volume

increased spleen red pulp amount
- massively expanded by hematopoietic cells

increased spleen weight
- spleen weights are 2-4 times those of controls

poikilocytosis

polychromatophilia

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

cellular phenotype

multifocal hepatic necrosis
- areas of acute coagulative necrosis without inflammation are present at the tips of liver lobes
- many mice have a thin, sharply demarcated rim of necrosis along the margins of the liver

homeostasis/metabolism phenotype

abnormal atrial thrombosis
- occasionally see acute right atrial thrombosis

hemosiderosis
- occasionally livers have marked hemosiderin deposits in Kupffer cells

pleural effusion
- severely anemic mice may exhibit pleural effusion

immune system phenotype

abnormal B cell physiology
- IgA synthesis is precocious, detectable at P21 unlike in controls

abnormal lymph node B cell domain morphology
- lack of discernible follicles

abnormal lymph node medullary cord morphology
- thickening of the medullary cords

abnormal lymph node morphology
- complete loss of normal architecture
- 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

abnormal lymph node T cell domain morphology
- no distinct paracortex

abnormal lymphocyte morphology
- exhibit lymphoproliferative lesions

abnormal macrophage morphology
- mild to moderate sinus histiocytosis in the lymph nodes

abnormal spleen B cell follicle morphology
- follicles are lacking and lymphocytes are absent in the spleen

abnormal spleen morphology
- lesions in the spleen

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

abnormal thymus cortex morphology
- the thymic cortex is rapidly depleted of lymphocytes over time

abnormal thymus morphology

absent spleen marginal zone
- distinct marginal zones are lacking

blepharitis
- scaliness on eyelids that seals the palpebral fissure

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

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

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

increased IgM level

increased inflammatory response
- perivascular infiltrates of mixed mononuclear cells and granulocytes are seen in heart, pancreas, lung, salivary gland, kidney, and mesenteries

increased leukocyte cell number

increased spleen red pulp amount
- massively expanded by hematopoietic cells

increased spleen weight
- spleen weights are 2-4 times those of controls

liver inflammation
- leukocytic infiltrations are present in the portal areas of the liver

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

craniofacial phenotype

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

small ears
- ears are small and sometimes folded

thick ears

integument phenotype

abnormal epidermal layer morphology
- occasionally see intraepidermal pustules

abnormal tail ring morphology
- scales on base of tail may form thick circumferential rings

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

epidermal hyperplasia

orthokeratosis
- moderate to severe orthokeratotic hyperkeratosis

parakeratosis
- multifocal parakeratosis

scaly skin
- 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
- apparent at 7 days of age

liver/biliary system phenotype

abnormal hepatic cord morphology
- centrolobular hepatic cords are atrophied

abnormal liver morphology
- lesions in the liver
- occasionally livers have marked erythrophagocytosis or hemosiderin deposits in Kupffer cells

enlarged liver

enlarged liver sinusoidal spaces

jaundice
- severely anemic mice may exhibit slight icterus

liver inflammation
- leukocytic infiltrations are present in the portal areas of the liver

multifocal hepatic necrosis
- areas of acute coagulative necrosis without inflammation are present at the tips of liver lobes
- many mice have a thin, sharply demarcated rim of necrosis along the margins of the liver

endocrine/exocrine gland phenotype

abnormal thymus cortex morphology
- the thymic cortex is rapidly depleted of lymphocytes over time

abnormal thymus morphology

cryptorchism
- testicles are retained in the abdominal cavity

small testis

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

mortality/aging

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

renal/urinary system phenotype

pale kidney

reproductive system phenotype

abnormal male reproductive system morphology
- swelling and reddening of the genital papilla at 12-14 days of age

cryptorchism
- testicles are retained in the abdominal cavity

small testis

Genotype: Foxp3^sf/Y
involves: 101/H * C3H/HeH * STOCK MR

behavior/neurological phenotype

lethargy
- become lethargic the day before death

hearing/vestibular/ear phenotype

small ears

hematopoietic system phenotype

abnormal erythrocyte morphology

abnormal reticulocyte morphology
- increased reticulocyte count

abnormal spleen morphology

anemia
- become pale and anemic 2-3 days before death

decreased erythrocyte cell number
- low at birth and decrease as disease progresses

decreased hematocrit

decreased hemoglobin content
- older animals exhibit hypochromic red blood cells

decreased megakaryocyte cell number
- 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

extramedullary hematopoiesis
- persistence of hematopoiesis in the liver

increased leukocyte cell number

increased spleen red pulp amount
- hyperplasia of the red pulp

increased spleen weight
- about four times the normal weight

increased spleen white pulp amount
- hyperplasia of the white pulp

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

thrombocytopenia
- low at birth and decrease as disease progresses

cardiovascular system phenotype

gastrointestinal hemorrhage

craniofacial phenotype

small ears

immune system phenotype

abnormal spleen morphology

conjunctivitis

increased leukocyte cell number

increased spleen red pulp amount
- hyperplasia of the red pulp

increased spleen weight
- about four times the normal weight

increased spleen white pulp amount
- hyperplasia of the white pulp

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

integument phenotype

scaly skin
- first visible on the underside of the tail and later on other body parts

tight skin

liver/biliary system phenotype

abnormal liver morphology
- liver is dotted with yellow foci in some animals, suggesting infection

enlarged liver

pale liver

digestive/alimentary phenotype

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

gastrointestinal hemorrhage

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

short perineum

mortality/aging

lethality at weaning, complete penetrance
- death occurs as early as P18 and most die between 19 and 22 days, although a few survive to 30 days

renal/urinary system phenotype

pale kidney

reproductive system phenotype

abnormal male reproductive system morphology
- reddening and swelling of the genital papilla at P12-14

absent scrotum

cryptorchism
- testes are abdominal or inguinal

short perineum

small gonad
- reproductive structures are extremely underdeveloped

respiratory system phenotype

abnormal breathing pattern

vision/eye phenotype

conjunctivitis

narrow eye opening
- closed eyelids in almost all 14 day or older mice due to conjunctivitis
- eyelid aperature is small

endocrine/exocrine gland phenotype

cryptorchism
- testes are abdominal or inguinal

growth/size/body region phenotype

decreased body size

decreased body weight

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

small ears

Genotype: Foxp3^sf/?
Not Specified

immune system phenotype

liver inflammation
- tissue displays extensive mononuclear cell infiltration

lung inflammation
- tissue displays extensive mononuclear cell infiltration
- tissue has dense predominantly peribronchovascular infiltrates, composed of CD4+ and Cd8+ T cells

liver/biliary system phenotype

liver inflammation
- tissue displays extensive mononuclear cell infiltration

respiratory system phenotype

lung inflammation
- tissue displays extensive mononuclear cell infiltration
- tissue has dense predominantly peribronchovascular infiltrates, composed of CD4+ and Cd8+ T cells

The following phenotype relates to a compound genotype created using this strain

Genotype: Foxp3^sf/Y
B6.Cg-Foxp3

hematopoietic system phenotype

abnormal CD4-positive, alpha beta T cell morphology

abnormal CD4-positive, alpha-beta T cell physiology
- 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

abnormal megakaryocyte progenitor cell morphology
- mutants exhibit about a 50% reduction in megakaryocyte progenitors

decreased CD4-positive, CD25-positive, alpha-beta regulatory T cell number
- 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
- ps rescues the disease phenotype

decreased megakaryocyte cell number
- mutants exhibit about 4-fold less mature bone marrow megakaryocytes than controls

increased mean platelet volume

thrombocytopenia
- mutants exhibit up to 53% fewer platelets than controls

homeostasis/metabolism phenotype

abnormal homeostasis
- 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 phenotype

abnormal CD4-positive, alpha beta T cell morphology

abnormal CD4-positive, alpha-beta T cell physiology
- 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

decreased CD4-positive, CD25-positive, alpha-beta regulatory T cell number
- 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
- ps rescues the disease phenotype

Genotype: Foxp3^sf/Y
B6.Cg-Foxp3/J

digestive/alimentary phenotype

salivary gland inflammation
- feeding mutants with a TLR agonist, LPS, induces inflammation in the salivary glands
- transfer of mutant lymph node cells to RAG-1 knock-out mice induces severe inflammation in the salivary glands and loss of salivary function

integument phenotype

skin inflammation

respiratory system phenotype

lung inflammation
- Normal - however, salivary gland or lacrimal gland inflammation is not seen
- severe lung inflammation

endocrine/exocrine gland phenotype

salivary gland inflammation
- feeding mutants with a TLR agonist, LPS, induces inflammation in the salivary glands
- transfer of mutant lymph node cells to RAG-1 knock-out mice induces severe inflammation in the salivary glands and loss of salivary function

immune system phenotype

lung inflammation
- Normal - however, salivary gland or lacrimal gland inflammation is not seen
- severe lung inflammation

salivary gland inflammation
- feeding mutants with a TLR agonist, LPS, induces inflammation in the salivary glands
- transfer of mutant lymph node cells to RAG-1 knock-out mice induces severe inflammation in the salivary glands and loss of salivary function

skin inflammation

References

Additional References

Godfrey VL; Wilkinson JE; Russell LB. 1991. X-linked lymphoreticular disease in the scurfy (sf) mutant mouse. Am J Pathol 138(6):1379-87PubMed: 2053595 MGI: J:11262
Godfrey VL; Rouse BT; Wilkinson JE. 1994. Transplantation of T cell-mediated, lymphoreticular disease from the scurfy (sf) mouse. Am J Pathol 145(2):281-6PubMed: 8053488 MGI: J:19699
Blair PJ; Bultman SJ; Haas JC; Rouse BT; Wilkinson JE; Godfrey VL. 1994. CD4+CD8- T cells are the effector cells in disease pathogenesis in the scurfy (sf) mouse. J Immunol 153(8):3764-74PubMed: 7930593 MGI: J:20865
Blair PJ; Carpenter DA; Godfrey VL; Russell LB; Wilkinson JE; Rinchik EM. 1994. The mouse scurfy (sf) mutation is tightly linked to Gata1 and Tfe3 on the proximal X chromosome. Mamm Genome 5(10):652-4PubMed: 7849405 MGI: J:21019
Yilmaz OK; Haeberle S; Zhang M; Fritzler MJ; Enk AH; Hadaschik EN. 2019. Scurfy Mice Develop Features of Connective Tissue Disease Overlap Syndrome and Mixed Connective Tissue Disease in the Absence of Regulatory T Cells. Front Immunol 10:881PubMed: 31068947 MGI: J:283172
Kanangat S; Blair P; Reddy R; Deheshia M; Godfrey V; Rouse BT; Wilkinson E. 1996. Disease in the scurfy (sf) mouse is associated with overexpression of cytokine genes. Eur J Immunol 26(1):161-5PubMed: 8566060 MGI: J:33090
Clark LB; Appleby MW; Brunkow ME; Wilkinson JE; Ziegler SF; Ramsdell F. 1999. Cellular and molecular characterization of the scurfy mouse mutant. J Immunol 162(5):2546-54PubMed: 10072494 MGI: J:53219
Bultman S; Magnuson T. 2000. Molecular and genetic analysis of the mouse homolog of the Drosophila suppressor of position-effect variegation 3-9 gene Mamm Genome 11(4):251-4PubMed: 10754099 MGI: J:61103
Means GD; Toy DY; Baum PR; Derry JM. 2000. A transcript map of a 2-Mb BAC contig in the proximal portion of the mouse X chromosome and regional mapping of the scurfy mutation. Genomics 65(3):213-23PubMed: 10857745 MGI: J:62168
Ramsdell F; Peake J; Faravelli F; Casanova JL; Buist N; Levy-Lahad E; Mazzella M; Goulet O; Perroni L; Dagna Bricarelli F; Byrne G; McEuen M; Proll S; Appleby M; Brunkow ME; Wildin RS. 2001. X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy Nat Genet 27(1):18-20PubMed: 11137992 MGI: J:66734
Bennett CL; Brunkow ME; Ramsdell F; O'Briant KC; Zhu Q; Fuleihan RL; Shigeoka AO; Ochs HD; Chance PF. 2001. A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA-->AAUGAA) leads to the IPEX syndrome. Immunogenetics 53(6):435-9PubMed: 11685453 MGI: J:72435
Khattri R; Kasprowicz D; Cox T; Mortrud M; Appleby MW; Brunkow ME; Ziegler SF; Ramsdell F. 2001. The amount of scurfin protein determines peripheral T cell number and responsiveness. J Immunol 167(11):6312-20PubMed: 11714795 MGI: J:72828

Additional - Foxp3^sf related

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Genotyping Protocols
- End Point Analysis:Foxp3^sf
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Mating System
- Heterozygote x C57BL/6J (000664)
- Heterozygous female x C57BL/6J male (000664
Citation
When using the B6-scurfy mouse strain in a publication, please cite the originating article(s) and include JAX stock #004088 in your Materials and Methods section.

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Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

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	Heterozygous females and Wildtype males for Foxp3<sf>

We will fulfill your order by providing at least two carriers for each strain ordered. The total number, sex, and genotypes provided will vary, although typically 8 or more animals are provided. Please check genotypes which will be recovered. While the genotypes of all animals produced will be communicated to you prior to scheduling shipment, the genotypes of animals provided may not reflect the mating scheme and genotypes described in the strain description. Animals are typically ready to ship in 11-14 weeks. If a second recovery is required to produce the minimum number of animals, then delivery time would increase to approximately 25 weeks. If we fail to produce animals of the correct genotype, you will not be charged. We cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation.

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"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCT(S)" means biological materials supplied by JACKSON, and their derivatives. "SERVICES" means projects conducted by JACKSON for other parties that may include but are not limited to the use of MICE or PRODUCTS. "RECIPIENT" means each recipient of MICE, PRODUCTS, or SERVICES provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE, PRODUCTS or SERVICES from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON’s prior written authorization.

No Warranty

MICE, PRODUCTS AND SERVICES ARE PROVIDED "AS IS". JACKSON EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.

Credit for PRODUCTS or SERVICES

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of, PRODUCTS or SERVICES, JACKSON will, at its option, provide credit or replacement for the PRODUCT received or the SERVICES provided; JACKSON makes no other representations and this shall be the exclusive remedy of the purchaser. Please note specific policy for live mice.

Animal Care and Use for SERVICES

Consistent with the requirement for a written understanding regarding animal care and use, the JACKSON Animal Care and Use Committee will review the animal care and use protocol(s) associated with any SERVICES to be performed at JACKSON, and JACKSON shall have ultimate responsibility and authority for the care of animals while on site or in JACKSON custody.

No Liability

In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS, or SERVICES, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS, or SERVICES from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.

MICE, PRODUCTS or SERVICES are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or SERVICES. In addition, special terms and conditions of sale of certain MICE, PRODUCTS, or SERVICES may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and SERVICES by JACKSON, and by its licensees and distributors.

Acceptance of delivery of MICE, PRODUCTS or SERVICES shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or SERVICES by JACKSON.

Also Known As: B6-scurfy

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Foxp3sf

Allele Symbol: Foxp3sf

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Model with phenotypic similarity to human disease where etiologies are distinct. Human genes are associated with this disease. Orthologs of these genes do not appear in the mouse genotype(s).

No similarity to the expected human disease phenotype was found. One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of these genes, but the phenotype did not resemble the disease.

Research Areas By Genotype

This mouse can be used to support research in many areas including:

Genotype: Foxp3sf related

Mammalian Phenotype Terms by Genotype

Genotype: Foxp3sf/0involves: STOCK MR

integument phenotype

mortality/aging

vision/eye phenotype

Genotype: Foxp3sf/Yinvolves: STOCK MR

endocrine/exocrine gland phenotype

reproductive system phenotype

vision/eye phenotype

growth/size/body region phenotype

integument phenotype

mortality/aging

Genotype: Foxp3sf/Yeither: 129Rl.Cg-Foxp3 or (involves: 101/Rl * C3Hf/Rl * STOCK MR)

behavior/neurological phenotype

respiratory system phenotype

vision/eye phenotype

growth/size/body region phenotype

cardiovascular system phenotype

hearing/vestibular/ear phenotype

hematopoietic system phenotype

cellular phenotype

homeostasis/metabolism phenotype

immune system phenotype

craniofacial phenotype

integument phenotype

liver/biliary system phenotype

endocrine/exocrine gland phenotype

mortality/aging

renal/urinary system phenotype

reproductive system phenotype

Genotype: Foxp3sf/Yinvolves: 101/H * C3H/HeH * STOCK MR

behavior/neurological phenotype

hearing/vestibular/ear phenotype

hematopoietic system phenotype

cardiovascular system phenotype

craniofacial phenotype

immune system phenotype

integument phenotype

liver/biliary system phenotype

digestive/alimentary phenotype

mortality/aging

renal/urinary system phenotype

reproductive system phenotype

respiratory system phenotype

vision/eye phenotype

endocrine/exocrine gland phenotype

growth/size/body region phenotype

Genotype: Foxp3sf/?Not Specified

immune system phenotype

liver/biliary system phenotype

respiratory system phenotype

Genotype: Foxp3sf/YB6.Cg-Foxp3

hematopoietic system phenotype

homeostasis/metabolism phenotype

immune system phenotype

Genotype: Foxp3sf/YB6.Cg-Foxp3/J

digestive/alimentary phenotype

integument phenotype

respiratory system phenotype

endocrine/exocrine gland phenotype

immune system phenotype

References

Additional References

Foxp3^sf

Allele Symbol: Foxp3^sf

Genotype: Foxp3^sf related

Genotype: Foxp3^sf/0
involves: STOCK MR

Genotype: Foxp3^sf/Y
involves: STOCK MR

Genotype: Foxp3^sf/Y
either: 129Rl.Cg-Foxp3 or (involves: 101/Rl * C3Hf/Rl * STOCK MR)

Genotype: Foxp3^sf/Y
involves: 101/H * C3H/HeH * STOCK MR

Genotype: Foxp3^sf/?
Not Specified

Genotype: Foxp3^sf/Y
B6.Cg-Foxp3

Genotype: Foxp3^sf/Y
B6.Cg-Foxp3/J

Additional - Foxp3^sf related