Overview

Also Known As:NOD-scurfy, NOD.Fox-p3

Hemizygous males carrying the recessive, spontaneous scurfy mutation exhibit massive lymphoproliferation and inflammatory infiltration in several organs, and die by three weeks of age.

Donating Investigator

Christophe Benoist, Joslin Diabetes Center

Genetic overview

Genetic Background	Generation
001976 NOD/ShiLtJ

Foxp3^sf

Allele Type	Gene Symbol	Gene Name
Spontaneous	Foxp3	forkhead box P3

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Research Applications

Mouse/Human Gene Homologs
Immunology, Inflammation and Autoimmunity Research
Developmental Biology Research
Cell Biology Research
Hematological Research
Internal/Organ Research
Reproductive Biology Research
Research Tools

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

Scurfy mice develop an X-linked lymphoproliferative disease resulting from defective T cell tolerance. By 3 weeks of age, Foxp3-deficient NOD mice suffer massive lymphoproliferation and inflammatory infiltration in lungs, liver, skin, pancreas, kidneys, stomach, colon, fat and muscles and die by three weeks of age. At 14 days of age, NOD.Foxp3-deficient mice developed exocrine pancreatitis and occasional peri-insulitis; however invasive insulitis and diabetes were not observed.

In a NOD.Foxp3-deficient, BDC2.5 TCR transgenic model, mice experienced markedly decreased lymphoproliferation, yet 100% were diabetic by 20 days of age.

This congenic NOD scurfy model is useful to study the role of Foxp3-dependent regulatory T cells on diabetes development.

Development

Foxp3, forkhead box P3, located on the X-Chr. (2.1cM) is necessary for Treg development. An X-linked, spontaneous mutation, Foxp3^sf (scurfy) results in loss of function of the Foxp3 gene which leads to a genetic deficit of regulatory T cells. 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. B6.Cg-Foxp3^sf mice were backcrossed to NOD. In 2007, the T1DR received this strain at N15 and mated to NOD/ShiLtJ (Stock No. 001976) for 1 generation prior to sibling mating.

Control Suggestions

Wild-type from the colony
001976 NOD/ShiLtJ

Additional Information

Considerations for Choosing Controls

Selected References

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):1387-97PubMed: 16301745 MGI: J:118845

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Genetics

Foxp3^sf

Allele Symbol: Foxp3^sf

Allele Name	scurfy
Allele Type	Spontaneous
Allele Synonym(s)	Scurfy; sf
Gene Symbol and Name	Foxp3, forkhead box P3
Gene Synonym(s)
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

Research Areas By Phenotype

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

Genotype: Foxp3^sf related

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
Developmental Biology Research
- Internal/Organ Defects
  - gonads
- Skin and Hair Texture Defects
- Postnatal Lethality
- Lymphoid Tissue Defects
- Craniofacial and Palate Defects
- Growth Defects
Cell Biology Research
- Transcriptional Regulation
Hematological Research
- Immunological Defects
- Anemia, Iron Deficiency and Transport Defects
Internal/Organ Research
- Lymphoid Tissue Defects
Reproductive Biology Research
- Developmental Defects Affecting Gonads
- Fertility Defects
Dermatology Research
- Skin and Hair Texture Defects
Endocrine Deficiency Research
- Gonad Defects

Research Tools
- Diabetes and Obesity Research
Diabetes and Obesity Research
- Type 1 Diabetes (IDDM) Analysis Strains

Mammalian Phenotype Terms by Genotype

References

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):1387-97PubMed: 16301745 MGI: J:118845

Additional - Foxp3^sf related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Pyrosequencing:Foxp3
- End Point Analysis:Foxp3
- Separated PCR:Foxp3
- Genotyping resources and troubleshooting
Breeding Considerations

Only the heterozygous female will be available for distribution, the hemizygous male dies too early to be shipped. Breeder pair is het female x wildtype or NOD/ShiLtJ (Stock No. 001976) male (not reciprocal). Affected mutant is hemizygous male. Homozygous female would also be affected, but traditional breeding schemes will not allow for the female to be born.
- Additional Breeding and Husbandry Support
Appearance
- pink-eyed, albino
  Related Genotype: A/A Tyr^c/Tyr^c
Citation
When using the NOD.Fox-p3 mouse strain in a publication, please cite the originating article(s) and include JAX stock #006775 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

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

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
> >	Female Heterozygous and Wildtype males for Foxp3<sf>

Related Products and Services

Frozen Mouse Embryo	NOD.Cg-Foxp3<sf>/DoiJ Frozen Embryos	$2595.00
Frozen Mouse Embryo	NOD.Cg-Foxp3<sf>/DoiJ Frozen Embryos	$2595.00
Frozen Mouse Embryo	NOD.Cg-Foxp3<sf>/DoiJ Frozen Embryos	$3373.50
Frozen Mouse Embryo	NOD.Cg-Foxp3<sf>/DoiJ Frozen Embryos	$3373.50

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

Terms Of Use

General Terms and Conditions

Questions about Terms of Use

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

Also Known As:NOD-scurfy, NOD.Fox-p3

Donating Investigator

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Selected References

Foxp3sf

Allele Symbol: Foxp3sf

Disease Terms

Research Areas By Phenotype

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

Genotype: Foxp3sf related

Mammalian Phenotype Terms by Genotype

References

Additional - Foxp3sf related

Genotyping Protocols

Breeding Considerations

Appearance

Citation

Animal Health Reports

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

Live Mouse

Cryorecovery - Pricing

Related Products and Services

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

Foxp3^sf

Allele Symbol: Foxp3^sf

Genotype: Foxp3^sf related

Additional - Foxp3^sf related