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Genes & Alleles

Foxp3;   Foxp3sf;

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Product Information

Strain Details

Type JAX® GEMM® Strain - Congenic Additional information on JAX® GEMM® Strains. Type JAX® GEMM® Strain - Mutant Strain Type JAX® GEMM® Strain - Spontaneous Mutation Mating System Heterozygote x +/+ sibling         (Female x Male) Species laboratory mouse Background Strain NOD/ShiLtJ Donor Strain C57BL/6J Donating Investigator Christophe Benoist,   Joslin Diabetes Center H2 Haplotype g7 Generation N15+N1F2 (05-JAN-08)

Appearance
pink-eyed, albino
Related Genotype: A/A Tyr^c/Tyr^c

Important Note
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.

Strain 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.

Strain 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.

Gene & Allele Details

Allele Symbol		Foxp3sf
Allele Name		scurfy
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; XPID; scurfin; scurfy; sf;
General Note		The scurfy mutation arose spontaneously in a partially inbred stock at the Oak Ridge National Laboratory. (J:13126). Occasional scurfy females have occurred and resemble scurfy males in appearance and viability. Their occurrence for some time obscuredthe nature of Foxp3sf inheritance. However, they are now accepted as X/O females, and indeed contributed to the clarification of the function of X and Y in mammalian sex determination (J:13126). Heterozygous females are indistinguishable from homozygous wild-type females (J:15341). A mouse homolog for the human Wiskott-Aldrich gene does not recombine with Foxp3 , and may be an allele (J:29221).
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]

Control Information

	Control
	Wild-type from the colony
	001976 NOD/ShiLtJ
Considerations for Choosing Controls

Genotyping Protocols

Foxp3^sf

Colony Maintenance

Diet Information	LabDiet® 5K52/5K67

Related Strains

Strains carrying   Foxp3^sf allele

004088

B6.Cg-Foxp3sf/J

View Strains carrying   Foxp3^sf     (1 strain)

Strains carrying other alleles of Foxp3

006772	B6.Cg-Foxp3tm2Tch/J
006769	C.Cg-Foxp3tm2Tch/J

View Strains carrying other alleles of Foxp3     (2 strains)

Additional Web Information

Congenic Nomenclature

Research Applications

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

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

Research Tools
Diabetes and Obesity Research

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

References

Selected Reference(s)

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]

Additional References

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Price and Supply Information

Strain Name:	NOD.Cg-Foxp3sf/DoiJ
Stock Number:	006775

 

This strain is currently Contact Customer Service for more information..
To register your interest in this strain go to the Strain Interest Form.

Estimated Available for Sale Date: 01-OCT-07

Please note: Estimated available for sale dates are provided to keep customers better informed on strains under development. Please note that our Colony Managers routinely monitor the target date and edit it based on breeding performance and other factors. The length of time it takes to make a new strain available for sale depends on genotype, age, number of animals sent by the Donating Investigator, breeding performance, additional strain development (backcrossing, making homozygous), and anticipated demand for the strain/interest registered.

View All Strains Under Development

Supply Details

Standard Supply	Contact Customer Service for more information.
Supply Notes	Usually shipped between four and eight weeks of age. This strain is included in the Type 1 Diabetes Repository collection.
Licensing	See General Terms and Conditions below
Control Information	View Control Information in Strain Details.

General Terms and Conditions

View JAX^® Mice & Services Conditions 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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