Description

Strain Information

Former Names B.Cg-Foxp3sf    (Changed: 15-DEC-04 ) Type Congenic; Mutant Strain; Additional information on Genetically Engineered Mutant Mice. Mating System Heterozygote x Inbred         (Female x Male) Species laboratory mouse Background Strain C57BL/6J Donor Strain Mixed Generation N8+N15F1 (14-DEC-07)

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 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, northymic 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, homozyous 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 Information

	Control
	Wild-type from the colony
Considerations for Choosing Controls

Related Strains

Strains carrying   Foxp3^sf allele

006775

NOD.Cg-Foxp3sf/DoiJ

View Strains carrying   Foxp3^sf     (1 strain)

Strains carrying other alleles of Foxp3

006772	B6.Cg-Foxp3tm2Tch/J
006769	C.Cg-Foxp3tm2Tch/J
008694	NOD/ShiLt-Tg(Foxp3-EGFP/cre)1Jbs/J

View Strains carrying other alleles of Foxp3     (3 strains)

Additional Web Information

Congenic Nomenclature

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms

	Ichthyosis and Male Hypogonadism - 5
NOT	Ichthyosis, X-Linked; XLI - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
NOT	Ichthyosis, X-Linked; XLI - 5
	Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked; - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
	Wiskott-Aldrich Syndrome; WAS - Models with phenotypic similarity to human disease where etiologies are distinct.2

1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s). 2 Human genes are associated with this disease. Orthologs of those genes do not appear in the mouse genotype(s). 5 Conditionally targeted allele(s)

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

The following phenotype information may relate to a genetic background differing from this JAX^® Mice strain.

Foxp3^sf/Y

        involves: STOCK MR

• lethality-postnatal
• postnatal lethality (MGI Ref ID J:13126)
  • female mice that only have one X chromosome that carries this mutation die before being able to reproduce
• skin/coat/nails phenotype
• scaly skin (MGI Ref ID J:13126)
  • first the tail, and then other parts of the body exhibit scaliness
• tight skin (MGI Ref ID J:13126)
  • mice also have tight skin
• vision/eye phenotype
• delayed eyelid opening (MGI Ref ID J:13126)
  • eyelids are delayed in opening

Foxp3^sf/Y

        involves: STOCK MR

• lethality-postnatal
• postnatal lethality (MGI Ref ID J:13126)
  • 2/3 die before weaning and most of the rest shortly after weaning, though occasionally can live for several months
• skin/coat/nails phenotype
• scaly skin (MGI Ref ID J:14076)
  • exhibit ichythosis
  • first the tail, and then other parts of the body exhibit scaliness
• tight skin (MGI Ref ID J:13126)
  • mice also have tight skin
• growth/size phenotype
• decreased body size (MGI Ref ID J:13126)
  • the few mice that live to adulthood are runty
• reproductive system phenotype
• abnormal male reproductive anatomy (MGI Ref ID J:13126)
  • reddening of the genital papilla at P11
• absent coagulating gland (MGI Ref ID J:14076)
• absent scrotum (MGI Ref ID J:14076)
• absent seminal gland (MGI Ref ID J:14076)
• cryptorchism (MGI Ref ID J:14076)
  • testes are abdominal
• small testis (MGI Ref ID J:14076)
• male infertility (MGI Ref ID J:14076)
  • the few mice that live to adulthood are infertile
• small gonad (MGI Ref ID J:14076)
• small testis (MGI Ref ID J:14076)
• vision/eye phenotype
• delayed eyelid opening (MGI Ref ID J:13126)
  • eyelids are delayed in opening
• endocrine/exocrine gland phenotype
• absent coagulating gland (MGI Ref ID J:14076)
• absent seminal gland (MGI Ref ID J:14076)
• cryptorchism (MGI Ref ID J:14076)
  • testes are abdominal
• small testis (MGI Ref ID J:14076)
• life span-post-weaning/aging
• premature death (MGI Ref ID J:13126)
  • the vast majority of mice that live past weaning die shortly thereafter

Foxp3^sf/Y

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

• life span-post-weaning/aging
• premature death (MGI Ref ID J:11262)
  • mean lifespan is about 24 days although a few survive to 30-39 days of age
• growth/size phenotype
• decreased body size (MGI Ref ID J:11262)
• cachexia (MGI Ref ID J:11262)
• distended abdomen (MGI Ref ID J:11262)
  • swollen abdomen
• skin/coat/nails phenotype
• abnormal epidermal layer morphology (MGI Ref ID J:11262)
  • occasionally see intraepidermal pustules
• epidermal hyperplasia (MGI Ref ID J:11262)
• hyperkeratosis (MGI Ref ID J:11262)
  • moderate to severe orthokeratotic hyperkeratosis
• parakeratosis (MGI Ref ID J:11262)
  • multifocal parakeratosis
• dermatitis (MGI Ref ID J:11262)
  • a diffuse lymphohistiocytic infiltration of the entire dermis that is most severe in the prepuce, ears, eyelids and facial skin
• scaly skin (MGI Ref ID 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 (MGI Ref ID J:11262)
  • apparent at 7 days of age
• vision/eye phenotype
• blepharitis (MGI Ref ID J:11262)
  • scaliness on eyelids that seals the palpebral fissure
• hearing/vestibular/ear phenotype
• scaly ears (MGI Ref ID J:11262)
  • crusting of the ears by 14-15 days of age
• small ears (MGI Ref ID J:11262)
  • ears are small and sometimes folded
• thick ears (MGI Ref ID J:11262)
• reproductive system phenotype
• abnormal male reproductive anatomy (MGI Ref ID J:11262)
  • swelling and reddening of the genital papilla at 12-14 days of age
• cryptorchism (MGI Ref ID J:11262)
  • testicles are retained in the abdominal cavity
• small testis (MGI Ref ID J:11262)
• immune system phenotype
• abnormal B cell physiology (MGI Ref ID J:11262)
  • IgA synthesis is precocious, detectable at P21 unlike in controls
• increased IgG level (MGI Ref ID J:11262)
  • apparent as early as 10 days of age and ranges from 2-10 times the concentration in controls
• increased IgM level (MGI Ref ID J:11262)
• abnormal lymph node morphology (MGI Ref ID 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 with a lack of discernible follicles and thickening of the medullary cords
• abnormal lymph node T cell domain (MGI Ref ID J:11262)
  • no distinct paracortex
• enlarged lymph nodes (MGI Ref ID J:11262)
  • subcutaneous lymph nodes such as inguinal, axillary, and cervical nodes and consistently enlarged while visceral lymph nodes are slightly or moderately enlarged
• abnormal lymphocyte morphology (MGI Ref ID J:11262)
  • exhibit lymphoproliferative lesions
• abnormal macrophage morphology (MGI Ref ID J:11262)
  • mild to moderate sinus histiocytosis in the lymph nodes
• abnormal spleen morphology (MGI Ref ID J:11262)
  • lesions in the spleen
• abnormal spleen white pulp morphology (MGI Ref ID 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
• abnormal spleen B cell follicle morphology (MGI Ref ID J:11262)
  • follicles are lacking and lymphocytes are absent in the spleen
• absent spleen marginal zone (MGI Ref ID J:11262)
  • distinct marginal zones are lacking
• increased spleen red pulp amount (MGI Ref ID J:11262)
  • massively expanded by hematopoietic cells
• increased spleen weight (MGI Ref ID J:11262)
  • spleen weights are 2-4 times those of controls
• abnormal thymus morphology (MGI Ref ID J:11262)
• abnormal thymus cortex morphology (MGI Ref ID J:11262)
  • the thymic cortex is rapidly depleted of lymphocytes over time
• small thymus (MGI Ref ID J:11262)
  • a bilobed thymus is present but extremely small and is densely populated with lymphocytes
• increased inflammatory response (MGI Ref ID J:11262)
  • perivascular infiltrates of mixed mononuclear cells and granulocytes are seen in heart, pancreas, lung, salivary gland, kidney, and mesenteries
• blepharitis (MGI Ref ID J:11262)
  • scaliness on eyelids that seals the palpebral fissure
• dermatitis (MGI Ref ID J:11262)
  • a diffuse lymphohistiocytic infiltration of the entire dermis that is most severe in the prepuce, ears, eyelids and facial skin
• liver inflammation (MGI Ref ID J:11262)
  • leukocytic infiltrations are present in the portal areas of the liver
• increased leukocyte cell number (MGI Ref ID J:11262)
• hematopoietic system phenotype
• abnormal lymphocyte morphology (MGI Ref ID J:11262)
  • exhibit lymphoproliferative lesions
• abnormal macrophage morphology (MGI Ref ID J:11262)
  • mild to moderate sinus histiocytosis in the lymph nodes
• abnormal red blood cell (MGI Ref ID J:11262)
• abnormal erythrocyte morphology (MGI Ref ID J:11262)
• anisocytosis (MGI Ref ID J:11262)
• increased mean corpuscular volume (MGI Ref ID J:11262)
• poikilocytosis (MGI Ref ID J:11262)
• polychromatophilia (MGI Ref ID J:11262)
• anemia (MGI Ref ID J:11262)
• decreased hematocrit (MGI Ref ID J:11262)
  • mean hematocrit values are about one half those of controls
• decreased hemoglobin content (MGI Ref ID J:11262)
  • mean hemoglobin volumes are about one half those of controls
• abnormal spleen morphology (MGI Ref ID J:11262)
  • lesions in the spleen
• abnormal spleen white pulp morphology (MGI Ref ID 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
• abnormal spleen B cell follicle morphology (MGI Ref ID J:11262)
  • follicles are lacking and lymphocytes are absent in the spleen
• absent spleen marginal zone (MGI Ref ID J:11262)
  • distinct marginal zones are lacking
• increased spleen red pulp amount (MGI Ref ID J:11262)
  • massively expanded by hematopoietic cells
• increased spleen weight (MGI Ref ID J:11262)
  • spleen weights are 2-4 times those of controls
• abnormal thymus morphology (MGI Ref ID J:11262)
• abnormal thymus cortex morphology (MGI Ref ID J:11262)
  • the thymic cortex is rapidly depleted of lymphocytes over time
• small thymus (MGI Ref ID J:11262)
  • a bilobed thymus is present but extremely small and is densely populated with lymphocytes
• extramedullary hematopoiesis (MGI Ref ID J:11262)
  • abundant hematopoiesis in the hepatic sinusoids, spleen and bone marrow
• increased leukocyte cell number (MGI Ref ID J:11262)
• liver/biliary system phenotype
• abnormal liver morphology (MGI Ref ID J:11262)
  • lesions in the liver
  • centrolobular hepatic cords are atrophied
  • occasionally livers have marked erythrophagocytosis or hemosiderin deposits in Kupffer cells
• enlarged liver sinusoidal spaces (MGI Ref ID J:11262)
• enlarged liver (MGI Ref ID J:11262)
• multifocal hepatic necrosis (MGI Ref ID J:11262)
  • many mice have a thin, sharply demarcated rim of necrosis along the margins of the live
  • areas of acute coagulative necrosis without inflammation are present at the tips of liver lobes
• jaundice (MGI Ref ID J:11262)
  • severely anemic mice may exhibit slight icterus
• liver inflammation (MGI Ref ID J:11262)
  • leukocytic infiltrations are present in the portal areas of the liver
• homeostasis/metabolism phenotype
• atrial thrombosis (MGI Ref ID J:11262)
  • occasionally see acute right atrial thrombosis
• renal/urinary system phenotype
• pale kidney (MGI Ref ID J:11262)
• behavior/neurological phenotype
• hunched posture (MGI Ref ID J:11262)
• cardiovascular system phenotype
• enlarged heart (MGI Ref ID J:11262)
  • severely anemic mice may exhibit cardiomegaly
• respiratory system phenotype
• abnormal respiratory system morphology (MGI Ref ID J:11262)
  • severely anemic mice may exhibit pleural effusion
• endocrine/exocrine gland phenotype
• cryptorchism (MGI Ref ID J:11262)
  • testicles are retained in the abdominal cavity
• small testis (MGI Ref ID J:11262)
• craniofacial phenotype
• scaly ears (MGI Ref ID J:11262)
  • crusting of the ears by 14-15 days of age
• small ears (MGI Ref ID J:11262)
  • ears are small and sometimes folded
• thick ears (MGI Ref ID J:11262)

Foxp3^sf/Y

        involves: 101/H * C3H/HeH * STOCK MR

• lethality-postnatal
• lethality at weaning (MGI Ref ID 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 phenotype
• decreased body size (MGI Ref ID J:10398)
• decreased body weight (MGI Ref ID J:10398)
• postnatal growth retardation (MGI Ref ID J:10398)
  • from 14-18 days there is a marked retardation of growth although animals are normal in size before then
• skin/coat/nails phenotype
• scaly skin (MGI Ref ID J:10398)
  • first visible on the underside of the tail and later on other body parts
• tight skin (MGI Ref ID J:10398)
• vision/eye phenotype
• conjunctivitis (MGI Ref ID J:10398)
• narrow eye opening (MGI Ref ID J:10398)
  • closed eyelids in almost all 14 day or older mice due to conjunctivitis
  • eyelid aperature is small
• hearing/vestibular/ear phenotype
• small ears (MGI Ref ID J:10398)
• reproductive system phenotype
• abnormal male reproductive anatomy (MGI Ref ID J:10398)
  • reddening and swelling of the genital papilla at P12-14
• absent scrotum (MGI Ref ID J:10398)
• cryptorchism (MGI Ref ID J:10398)
  • testes are abdominal or inguinal
• short perineum (MGI Ref ID J:10398)
• small gonad (MGI Ref ID J:10398)
  • reproductive structures are extremely underdeveloped
• immune system phenotype
• abnormal spleen morphology (MGI Ref ID J:10398)
• increased spleen red pulp amount (MGI Ref ID J:10398)
  • hyperplasia of the red pulp
• increased spleen weight (MGI Ref ID J:10398)
  • about four times the normal weight
• increased spleen white pulp amount (MGI Ref ID J:10398)
  • hyperplasia of the white pulp
• intermingled spleen red and white pulp (MGI Ref ID J:10398)
  • architecture of the spleen is disrupted, with white and red pulp intermingling
• conjunctivitis (MGI Ref ID J:10398)
• increased leukocyte cell number (MGI Ref ID J:10398)
• hematopoietic system phenotype
• abnormal red blood cell (MGI Ref ID J:10398)
• anemia (MGI Ref ID J:10398)
  • become pale and anemic 2-3 days before death
• decreased erythrocyte cell number (MGI Ref ID J:10398)
  • low at birth and decrease as disease progresses
• decreased hematocrit (MGI Ref ID J:10398)
• decreased hemoglobin content (MGI Ref ID J:10398)
  • older animals exhibit hypochromic red blood cells
• abnormal reticulocyte morphology (MGI Ref ID J:10398)
  • increased reticulocyte count
• abnormal spleen morphology (MGI Ref ID J:10398)
• increased spleen red pulp amount (MGI Ref ID J:10398)
  • hyperplasia of the red pulp
• increased spleen weight (MGI Ref ID J:10398)
  • about four times the normal weight
• increased spleen white pulp amount (MGI Ref ID J:10398)
  • hyperplasia of the white pulp
• intermingled spleen red and white pulp (MGI Ref ID J:10398)
  • architecture of the spleen is disrupted, with white and red pulp intermingling
• decreased megakaryocyte cell number (MGI Ref ID 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
• decreased platelet cell number (MGI Ref ID J:10398)
  • low at birth and decrease as disease progresses
• extramedullary hematopoiesis (MGI Ref ID J:10398)
  • persistence of hematopoiesis in the liver
• increased leukocyte cell number (MGI Ref ID J:10398)
• liver/biliary system phenotype
• abnormal liver morphology (MGI Ref ID J:10398)
  • liver is dotted with yellow foci in some animals, suggesting infection
• enlarged liver (MGI Ref ID J:10398)
• pale liver (MGI Ref ID J:10398)
• renal/urinary system phenotype
• pale kidney (MGI Ref ID J:10398)
• behavior/neurological phenotype
• lethargy (MGI Ref ID J:10398)
  • become lethargic the day before death
• cardiovascular system phenotype
• gastrointestinal hemorrhage (MGI Ref ID J:10398)
• digestive/alimentary phenotype
• diarrhea (MGI Ref ID J:10398)
  • some mice have diarrhea from the age of 14-15 days
• gastrointestinal hemorrhage (MGI Ref ID J:10398)
• melena (MGI Ref ID J:10398)
  • blood in feces is seen 2-3 days before death
• short perineum (MGI Ref ID J:10398)
• respiratory system phenotype
• abnormal breathing (MGI Ref ID J:10398)
• endocrine/exocrine gland phenotype
• cryptorchism (MGI Ref ID J:10398)
  • testes are abdominal or inguinal
• craniofacial phenotype
• small ears (MGI Ref ID J:10398)

Foxp3^sf/Y

        Background Not Specified

• immune system phenotype
• liver inflammation (MGI Ref ID J:138808)
  • tissue displays extensive mononuclear cell infiltration
• lung inflammation (MGI Ref ID J:138808)
  • 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 (MGI Ref ID J:138808)
  • tissue displays extensive mononuclear cell infiltration
• respiratory system phenotype
• lung inflammation (MGI Ref ID J:138808)
  • tissue displays extensive mononuclear cell infiltration
  • tissue has dense predominantly peribronchovascular infiltrates, composed of CD4+ and Cd8+ T cells

View Research Applications

Research Applications

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

Foxp3^sf related

Cell Biology Research
Transcriptional Regulation

Dermatology Research
Skin and Hair Texture Defects

Developmental Biology Research
Craniofacial and Palate Defects
Growth Defects
Internal/Organ Defects (gonads)
Lymphoid Tissue Defects
Postnatal Mortality
Skin and Hair Texture Defects

Endocrine Deficiency Research
Gonad Defects

Hematological Research
Anemia, Iron Deficiency and Transport Defects
Immunological Defects

Immunology and Inflammation Research
Autoimmunity
Intracellular Signaling Molecules
Lymphoid Tissue Defects
T Cell Receptor Signaling Defects

Internal/Organ Research
Lymphoid Tissue Defects

Mouse/Human Gene Homologs
IPEX/XLAAD/DMSD/XPID

Reproductive Biology Research
Developmental Defects Affecting Gonads
Fertility Defects

Genes & Alleles

Gene & Allele Information

Allele Symbol		Foxp3sf
Allele Name		scurfy
Allele Type		Spontaneous
Common Name(s)		sf;
Strain of Origin		STOCK MR
Gene Symbol and Name		Foxp3, forkhead box P3
Chromosome		X
Gene Common Name(s)		AIID; DIETER; IPEX; JM2; MGC141961; MGC141963; PIDX; RGD1562112; XPID; scurfin; scurfy; sf;
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. [MGI Ref ID J:66695]

Genotyping

Genotyping Information

Genotyping Protocols

Foxp3^sf, PYRO, vers. 2
Foxp3^sf, SEP PCR, vers. 1

Helpful Links

Optimizing PCR Protocols

References

References

Additional References

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):435-9. [PubMed: 11685453]  [MGI Ref ID J:72435]

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):3764-74. [PubMed: 7930593]  [MGI Ref ID 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):652-4. [PubMed: 7849405]  [MGI Ref ID J:21019]

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):251-4. [PubMed: 10754099]  [MGI Ref ID J:61103]

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):2546-54. [PubMed: 10072494]  [MGI Ref ID J:53219]

Godfrey VL; Rouse BT; Wilkinson JE. 1994. Transplantation of T cell-mediated, lymphoreticular disease from the scurfy (sf) mouse. Am J Pathol 145(2):281-6. [PubMed: 8053488]  [MGI Ref ID J:19699]

Godfrey VL; Wilkinson JE; Russell LB. 1991. X-linked lymphoreticular disease in the scurfy (sf) mutant mouse. Am J Pathol 138(6):1379-87. [PubMed: 2053595]  [MGI Ref ID J:11262]

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):161-5. [PubMed: 8566060]  [MGI Ref ID J:33090]

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):6312-20. [PubMed: 11714795]  [MGI Ref ID J:72828]

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):213-23. [PubMed: 10857745]  [MGI Ref ID 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):18-20. [PubMed: 11137992]  [MGI Ref ID J:66734]

Foxp3^sf related

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):3764-74. [PubMed: 7930593]  [MGI Ref ID J:20865]

Chang X; Chen L; Wen J; Godfrey VL; Qiao G; Hussien Y; Zhang J; Gao JX. 2006. Foxp3 controls autoreactive T cell activation through transcriptional regulation of early growth response genes and E3 ubiquitin ligase genes, independently of thymic selection. Clin Immunol 121(3):274-85. [PubMed: 16945588]  [MGI Ref ID J:115967]

Chang X; Gao JX; Jiang Q; Wen J; Seifers N; Su L; Godfrey VL; Zuo T; Zheng P; Liu Y. 2005. The Scurfy mutation of FoxP3 in the thymus stroma leads to defective thymopoiesis. J Exp Med 202(8):1141-51. [PubMed: 16230479]  [MGI Ref ID J:116829]

Chang X; Zheng P; Liu Y. 2008. Homeostatic proliferation in the mice with germline FoxP3 mutation and its contribution to fatal autoimmunity. J Immunol 181(4):2399-406. [PubMed: 18684929]  [MGI Ref ID J:140191]

Chen Z; Benoist C; Mathis D. 2005. How defects in central tolerance impinge on a deficiency in regulatory T cells. Proc Natl Acad Sci U S A 102(41):14735-40. [PubMed: 16203996]  [MGI Ref ID J:102496]

Chen Z; Herman AE; Matos M; Mathis D; Benoist C. 2005. Where CD4+CD25+ T reg cells impinge on autoimmune diabetes. J Exp Med 202(10):1387-97. [PubMed: 16301745]  [MGI Ref ID J:118845]

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Curotto de Lafaille MA; Kutchukhidze N; Shen S; Ding Y; Yee H; Lafaille JJ. 2008. Adaptive Foxp3+ regulatory T cell-dependent and -independent control of allergic inflammation. Immunity 29(1):114-26. [PubMed: 18617425]  [MGI Ref ID J:137881]

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Dudda JC; Perdue N; Bachtanian E; Campbell DJ. 2008. Foxp3+ regulatory T cells maintain immune homeostasis in the skin. J Exp Med 205(7):1559-65. [PubMed: 18573908]  [MGI Ref ID J:137389]

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Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           FGB29

Colony Maintenance

Mating System	Heterozygote x Inbred         (Female x Male)

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Supply Details

Standard Supply

Repository-Live. A collection of over 1000 strains maintained as live colonies. Individual colonies are sized to meet current customer demand. Delivery for orders of 10 mice or less ranges on average from one to eight weeks; mice are generally shipped between four to six weeks of age with a maximum shipping age of ~nine weeks. Colony sizes do not generally support stringent age specifications for large volumes of mice; however custom orders and larger quantities of mice are easily arranged. Estimated ship dates for all orders provided within 48 hours of order placement.

Supply Notes

Usually shipped between four and eight weeks of age. This strain is included in the Mouse Mutant Resource collection.

Control Information

	Control
	Wild-type from the colony
Considerations for Choosing Controls
USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains.
International - Control Pricing Information for Genetically Engineered Mutant Strains.

General Terms and Conditions

See Terms of Use

The Jackson Laboratory's Genotype Promise

The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX^® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX^® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX^® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.

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Ordering and Purchasing Information

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Fax: 207.288.6150
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General Terms and Conditions

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phone:	207-288-6470
fax:	207-288-6655

JAX^® Mice & Services Conditions of Use

“Each recipient institution, including its employees and other researchers under its control (RECIPIENT), of mice or services using mice from The Jackson Laboratory (TJL) agrees that such mice, descendants of those mice derived by inbreeding or crossbreeding, including unmodified derivatives of those mice or their descendants (“MICE”) shall not be: (i) used for any purpose other than the internal research of the RECIPIENT, (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 with respect to MICE. Acceptance of MICE from TJL shall be deemed agreement by RECIPIENT to these conditions, and departure from these conditions requires The Jackson Laboratory’s prior written authorization.”

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of MICE, products or services, The Jackson Laboratory will, at its option, provide credit or replacement for the MICE or product received or the services provided.

No Liability

In no event shall The Jackson Laboratory, 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 The Jackson Laboratory, its agents or employees. In purchasing or receiving MICE, products or services from The Jackson Laboratory, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges The Jackson Laboratory from all such causes of action or damages, and further agrees to defend and indemnify The Jackson Laboratory from any costs or damages arising out of any third party claims.

MICE and biological materials 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 The Jackson Laboratory’s MICE, products and services. In addition, special terms and conditions of sale of certain MICE, products and services may be set forth separately in The Jackson Laboratory 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 The Jackson Laboratory, 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 The Jackson Laboratory, 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 services by The Jackson Laboratory.