Overview

Also Known As:satin beige

This inbred mutant strain is homozygous for both the satin (Foxq1^sa) and beige (Lyst^bg) mutations, and is characterized by its immunological phenotype due to the beige mutation; homozygous mutant beige mice exhibit a condition that closely resembles Chediak-Higashi disease in man.

Genetic overview

Genetic Background	Generation

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Research Applications

Dermatology Research
Metabolism Research
Cardiovascular Research
Hematological Research
Immunology, Inflammation and Autoimmunity Research
Sensorineural Research
Mouse/Human Gene Homologs
Internal/Organ Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Important Note

This strain is homozygous for Lyst^bg, Foxq1^sa and the retinal degeneration allele Pde6b^rd1. See article "Genetic Background Effects: Can Your Mice See?", JAX^® NOTES Spring 2002, No. 485.

Detailed Description

The SB/Le inbred strain is homozygous for both the satin (Foxq1^sa) and beige (Lyst^bg) mutations. Most of the immunological phenotype is due to the beige mutation. Homozygous mutant beige mice are characterized by a condition that closely resembles Chediak-Higashi disease in man and similar conditions in mink and cattle. Abnormal giant lysosomal granules occur in all tissues with granule-containing cells, including granulocytes, lymphocytes, cells of the liver, kidney, central nervous system, pancreas, and thyroid, and the ducts of most glands; in type II pneumocytes; in mast cells; and in retinal pigment epithelium. Granulocytes from beige mice show defective chemotaxis and reduced bactericidal activity. Beige mice are more susceptible than controls to pneumonitis and to various viral, bacterial, and parasitic infections. They have a severe deficiency of natural killer (NK) cells. Beige mice also have a defective cytotoxic T-cell and cytotoxic antibody response to allogeneic tumor cells. Syngeneic tumor cells grow better in beige mice than in littermate controls, an effect thought to be due to the deficiency of NK cells. Beige mice have platelet storage pool deficiency, leading to a prolonged bleeding time. The immunodeficiency of beige mutant mice has been used, especially in combination with the scid mutation (Prkdc^scid), in tissue graft and disease studies. SB/Le mice are also homozygous for white-bellied agouti (A^w) and the retinal degeneration 1 mutation (Pde6b^rd1). The retinal degeneration 1 mutation leads to early blindness (by weaning). Quantitative RT-PCR comparing Lyst mRNA from mice with the Lyst^bg, Lyst^bg-J, or Lyst^bg-2J alleles has shown that mice with the Lyst^bg-2J allele have the greatest reduction in mRNA, and mice with the Lyst^bg-J allele have the least reduction (Barbosa et al. Nature 1996 382:262-265). The precise function of the Lyst protein remains undetermined. Homology searches and defective Concanabalin A induced capping have lead to the postulate that Lyst is involved in microtubule function.

Development

Both the satin (Foxq1^sa) and the original beige (Lyst^bg) recessive mutations arose at Oak Ridge National Laboratory in backcross test matings from T stock female x irradiated (101/Rl x C3H/Rl)F1 male. T stock was a multiple-recessive tester strain that contained several backgrounds including C57BL10/Rl. The two separate mutations, Foxq1^sa and bg, were bred together and homozygous A^w/A^w Foxq1^sa bg/Foxq1^sa bg mice on a mixed background were received at The Jackson Laboratory in 1961 and sibling mated thereafter. In 1963 this breeding was at F7, in 1967 it reached F20, and in 1971 the strain was re-named SB/LeJ, an inbred strain (Lane et al., 1972 Genetics 71:451-460). The Lyst^bg allele was found to have arisen from the retrotransposition of a LINE1 element resulting in a cDNA sequence which predicts a truncated Lyst protein product (Perou et al., Genomics 1997; 42:366-368). This insertion occurred in the C3H derived chromosome rather than the 101/R1 derived chromosome in the irradiated founder (101/Rl x C3H/Rl)F1 male (Perou et al., Nature Genetics 1996; 13:303-308). Subsequent sponta neous mutations of Lyst have been identified. It is worthwhile to note that Stock No. 000204, the C57BL/6J congenic of Lyst^bg named B6.Cg-Lyst^bg/J, and Stock No. 000629, the spontaneous mutation on C57BL/6J named C57BL/6J-Lyst^bg-J/J are both offered by The Jackson Laboratory and should not be confused.

Control Suggestions

None Available

Additional Information

Considerations for Choosing Controls

Selected References

Petkov PM; Cassell MA; Sargent EE; Donnelly CJ; Robinson P; Crew V; Asquith S; Haar RV; Wiles MV. 2004. Development of a SNP genotyping panel for genetic monitoring of the laboratory mouse. Genomics 83(5):902-11PubMed: 15081119 MGI: J:89298

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Genetics

Lyst^bg

Allele Symbol: Lyst^bg

Allele Name	beige
Allele Type	Radiation induced
Allele Synonym(s)	30B/22B; bg; CHS mice
Gene Symbol and Name	Lyst, lysosomal trafficking regulator
Gene Synonym(s)
Strain of Origin	C3H/Rl
Chromosome	13
Molecular Note	This allele is an insertion of a partial LINE 1 repetitive element into an intron of the gene. The insertion included only the most 3' 1097 bp of the element producing a frameshift mutation resulting in a truncated protein predicted to be missing the last 1442 amino acids.

Foxq1^sa

Allele Symbol: Foxq1^sa

Allele Name	satin
Allele Type	Radiation induced
Allele Synonym(s)	sa; satin
Gene Symbol and Name	Foxq1, forkhead box Q1
Gene Synonym(s)
Strain of Origin	(101/Rl x C3H/Rl)F1
Chromosome	13
Molecular Note	This allele occurred in descendants of a gamma irradiation experiment. The underlying mutation was identified as a 67 bp intragenic deletion. The deletion causes a frame shift resulting in a truncated 376 amino acid protein but does not affect the first 228 residues, including the characteristic WH DNA-binding domain. The mutant protein is predicted to bind to its DNA targets but fails at transcriptional activation or repression because the specific C-terminal domains are missing.

Pde6b^rd1

Allele Symbol: Pde6b^rd1

Allele Name	retinal degeneration 1
Allele Type	Spontaneous
Allele Synonym(s)	Pdeb^rd1; rd; rd1; rd-1; rodless retina
Gene Symbol and Name	Pde6b, phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide
Gene Synonym(s)
Strain of Origin	various
Chromosome	5
General Note	The following inbred strains are known to be homozygous for Pde6b: C3H sublines, CBA/J, FVB/NJ, PL/J, SB, SJL/J, and SWR/J.
Molecular Note	Two mutations have been identified in rd1 mice. A murine leukimia virus (Xmv-28) insertion in reverse orientation in intron 1 is found in all mouse strains with the rd1 phenotype. Further, a nonsense mutation (C-to-A transversion) in codon 347 that results in a truncation eliminating more than half of the predicted encoded protein, including the catalytic domain, has been identified in all rd1 strains of mice. A specific degradation of mutant transcript during or after pre-mRNA splicing is suggested.

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

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

Genotype: Foxq1^sa related

Dermatology Research
- Skin and Hair Texture Defects

Genotype: Lyst^bg related

Metabolism Research
Cardiovascular Research
- Atherosclerosis
Dermatology Research
- Color and White Spotting Defects
Hematological Research
- Immunological Defects
- Platelet Defects
  - platelet storage pool deficiency
Immunology, Inflammation and Autoimmunity Research
- CD Antigens, Antigen Receptors, and Histocompatibility Markers
- Immunodeficiency
- Intracellular Signaling Molecules
Internal/Organ Research
- Kidney Defects
  - lysosomal enzyme abnormalities
Mouse/Human Gene Homologs
- Chediak-Higashi syndrome
Research Tools
- Immunology, Inflammation and Autoimmunity Research
  - NK Cell Deficiency

Genotype: Pde6b^rd1 related

Sensorineural Research
- Retinal Degeneration
Mouse/Human Gene Homologs
- retinitis pigmentosa, autosomal recessive

Mammalian Phenotype Terms by Genotype

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

Genotype: Foxq1^sa/Foxq1^sa Lyst^bg/Lyst^bg
involves: 101/Rl * C3H/Rl * C57BL/6J * C57BL10/Rl

immune system phenotype

enlarged lymph nodes

increased susceptibility to infection
- specific action of the mutation Lyst^bg increases susceptibility to progressive pneumonitis

interstitial pneumonia
- Background Sensitivity - by 6 months of age 49% of beige and 11% of nonbeige backcross offspring from an outcross to C57BL/6J-A^w-J develop progressive pneumonitis compared to 70% without C57BL/6J in the background
- mice die with pneumonitis during the first year of life

mortality/aging

premature death
- mice die of pneumonitis during the first year of life

neoplasm

increased lymphoma incidence

respiratory system phenotype

interstitial pneumonia
- Background Sensitivity - by 6 months of age 49% of beige and 11% of nonbeige backcross offspring from an outcross to C57BL/6J-A^w-J develop progressive pneumonitis compared to 70% without C57BL/6J in the background
- mice die with pneumonitis during the first year of life

Genotype: Foxq1^sa/Foxq1^sa Lyst^bg/Lyst^bg
involves: 101/Rl * C3H/Rl * C57BL10/Rl

growth/size/body region phenotype

enlarged spleen
- usually enlarged in the presence of pulmonary disease

weight loss
- weight loss, particularly in males, is coincident with pneumonitis

hematopoietic system phenotype

enlarged spleen
- usually enlarged in the presence of pulmonary disease

immune system phenotype

enlarged spleen
- usually enlarged in the presence of pulmonary disease

interstitial pneumonia
- 70% of mice develop progressive pneumonitis by 6 months of age
- histologic samples of lobes with adhesions revealed underlying pneumonitis

lung inflammation
- showed either adhesions only or consolidation with or without adhesions

respiratory system phenotype

interstitial pneumonia
- 70% of mice develop progressive pneumonitis by 6 months of age
- histologic samples of lobes with adhesions revealed underlying pneumonitis

lung inflammation
- showed either adhesions only or consolidation with or without adhesions

Phenotype Information

Festing Inbred Strain Characteristics: SB

References

Petkov PM; Cassell MA; Sargent EE; Donnelly CJ; Robinson P; Crew V; Asquith S; Haar RV; Wiles MV. 2004. Development of a SNP genotyping panel for genetic monitoring of the laboratory mouse. Genomics 83(5):902-11PubMed: 15081119 MGI: J:89298

Additional References

Gallin JI; Bujak JS; Patten E; Wolff SM. 1974. Granulocyte function in the Chediak-Higashi syndrome of mice. Blood 43(2):201-6PubMed: 4589319 MGI: J:5405
Hong HK; Noveroske JK; Headon DJ; Liu T; Sy MS; Justice MJ; Chakravarti A. 2001. The winged helix/forkhead transcription factor Foxq1 regulates differentiation of hair in satin mice. Genesis 29(4):163-71PubMed: 11309849 MGI: J:75422
Perou CM; Moore KJ; Nagle DL; Misumi DJ; Woolf EA; McGrail SH; Holmgren L; Brody TH; Dussault BJ Jr; Monroe CA; Duyk GM; Pryor RJ; Li L; Justice MJ; Kaplan J. 1996. Identification of the murine beige gene by YAC complementation and positional cloning. Nat Genet 13(3):303-8PubMed: 8673129 MGI: J:33734
Roder JC. 1979. The beige mutation in the mouse. I. A stem cell predetermined impairment in natural killer cell function. J Immunol 123(5):2168-73PubMed: 489978 MGI: J:6213
Schiller NK; Black AS; Bradshaw GP; Bonnet DJ; Curtiss LK. 2004. Participation of macrophages in atherosclerotic lesion morphology in LDLr-/- mice. J Lipid Res 45(8):1398-409PubMed: 15175354 MGI: J:91367

Additional - Foxq1^sa related

Additional - Lyst^bg related

Additional - Pde6b^rd1 related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Appearance
- pale grey
  Related Genotype: A^w/A^w Lyst^bg Foxq1^sa/Lyst^bg Foxq1^sa
Citation
When using the satin beige mouse strain in a publication, please include JAX stock #000269 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

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Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	Inbred, 1 pair minimum will be supplied

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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.

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Also Known As:satin beige

Genetic overview

Research Applications

Base Price

Important Note

Detailed Description

Development

Control Suggestions

Additional Information

Selected References

Lystbg

Allele Symbol: Lystbg

Foxq1sa

Allele Symbol: Foxq1sa

Pde6brd1

Allele Symbol: Pde6brd1

Disease Terms

Research Areas By Phenotype

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

Genotype: Foxq1sa related

Genotype: Lystbg related

Genotype: Pde6brd1 related

Mammalian Phenotype Terms by Genotype

Genotype: Foxq1sa/Foxq1sa Lystbg/Lystbginvolves: 101/Rl * C3H/Rl * C57BL/6J * C57BL10/Rl

immune system phenotype

mortality/aging

neoplasm

respiratory system phenotype

Genotype: Foxq1sa/Foxq1sa Lystbg/Lystbginvolves: 101/Rl * C3H/Rl * C57BL10/Rl

growth/size/body region phenotype

hematopoietic system phenotype

immune system phenotype

respiratory system phenotype

Phenotype Information

References

Additional References

Additional - Foxq1sa related

Additional - Lystbg related

Additional - Pde6brd1 related

Genotyping Protocols

Appearance

Citation

Animal Health Reports

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

Live Mouse

Cryorecovery - Pricing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Lyst^bg

Allele Symbol: Lyst^bg

Foxq1^sa

Allele Symbol: Foxq1^sa

Pde6b^rd1

Allele Symbol: Pde6b^rd1

Genotype: Foxq1^sa related

Genotype: Lyst^bg related

Genotype: Pde6b^rd1 related

Genotype: Foxq1^sa/Foxq1^sa Lyst^bg/Lyst^bg
involves: 101/Rl * C3H/Rl * C57BL/6J * C57BL10/Rl

Genotype: Foxq1^sa/Foxq1^sa Lyst^bg/Lyst^bg
involves: 101/Rl * C3H/Rl * C57BL10/Rl

Additional - Foxq1^sa related

Additional - Lyst^bg related

Additional - Pde6b^rd1 related