Description

Strain Information

Former Names BALB/cBy-sfx/J    (Changed: 04-FEB-05 ) Type Coisogenic; Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered Mutant Mice. Species laboratory mouse

Appearance
albino
Related Genotype: A/A Tyrp1^b/Tyrp1^b Tyr^c/Tyr^c

Description
The sfx phenotype is not apparent until shortly after weaning age. By 26-30 days of age, homozygotes display decreased mobility, diminished weight gain, and more scruffy appearance than their heterozygous or wildtype siblings. Dissection reveals smaller spleen and thymus and increased kidney and brain weights. A reduction in bone mass is accompanied by a paucity of mature osteoblasts on bone surfaces, a subtle reduction of chrondrocytes in epiphyseal-plate columns, growth plate arrest in long bones, and other architectural abnormalities. Bone analysis shows sponteneous fractures both in large bones and smaller ones such as metacarpals. Serum analysis shows a decrease in calcium, inorganic phosphate, alkaline phosphatase, osteocalcin, and insulin-like growth factor 1. These homozygotes also have a reduction in the number of both the red and white blood cells. Homozygotes are fragile and must be handled with great care. (Beamer et al., 2000.)

Development
The sfx mutation arose spontaneously in the BALB/cBy-scat/Brk strain in 2000. The sfx-bearing strain was backcrossed to BALB/cBy, removing the scat mutation. This strain has subsequently been maintained via ovary transplant backcross-intercross using BALB/cByJ as the backcross partner.

Control Information

	Control
	Heterozygote from the colony
	Untested +/? from the colony
	001026 BALB/cByJ
Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Gulo

005354

RB156Bnr/Ei rul-Gulosfx-2J/J

View Strains carrying other alleles of Gulo     (1 strain)

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

Gulo^sfx/Gulo^sfx

        BALB/cBy-Gulo^sfx/J

• skeleton phenotype
• abnormal long bone epiphyseal plate morphology (MGI Ref ID J:66648)
  • growth plate arrest on the long bones was noted
  • osteoid was absent in regions adjacent to the growth plates of the long bones
  • necrosis below the growth plate and neovascularization
• abnormal osteoclast formation (MGI Ref ID J:66648)
• abnormal skeleton physiology (MGI Ref ID J:66648)
  • reduced osteocalcin levels
• fragile skeleton (MGI Ref ID J:66648)
  • numerous spontaneous impact fractures were observed in mutant mice; complete fractures were less common
• abnormal vertebral body morphology (MGI Ref ID J:66648)
  • lumbar vertebral bodies exhibited an absence of osteoid and trabeculae
• decreased bone density (MGI Ref ID J:66648)
  • bone mineral density is similar to controls in the center of the femoral diaphysis, but declines significantly at the ends of the femoral diaphysis
• decreased chondrocyte cell number (MGI Ref ID J:66648)
  • reduced number of chondrocytes in the growth plates
• decreased cortical bone thickness (MGI Ref ID J:66648)
  • thickness of the mutant bone was approximately 65% of controls
• homeostasis/metabolism phenotype
• decreased circulating alkaline phosphatase level (MGI Ref ID J:66648)
• decreased circulating insulin-like growth factor I level (MGI Ref ID J:66648)
  • reduced IGF-I levels
• hypocalcemia (MGI Ref ID J:66648)
• hypophosphatemia (MGI Ref ID J:66648)
• growth/size phenotype
• postnatal slow weight gain (MGI Ref ID J:66648)
  • mice failed to maintain the rate of weight gain compared to littermates after 26-30 days of age
• skin/coat/nails phenotype
• disheveled coat (MGI Ref ID J:66648)
  • scruffy appearance; possibly due decreased self-grooming behavior
• hematopoietic system phenotype
• decreased hematocrit (MGI Ref ID J:66648)
• small spleen (MGI Ref ID J:66648)
• small thymus (MGI Ref ID J:66648)
• immune system phenotype
• small spleen (MGI Ref ID J:66648)
• small thymus (MGI Ref ID J:66648)
• behavior/neurological phenotype
• hypoactivity (MGI Ref ID J:66648)
  • mice exhibited increased difficulty moving starting at 26-30 days of age
• nervous system phenotype
• increased brain size (MGI Ref ID J:66648)
• renal/urinary system phenotype
• enlarged kidney (MGI Ref ID J:66648)
• reproductive system phenotype
• *normal* reproductive system phenotype (MGI Ref ID J:66648)
  • normal testis
• liver/biliary system phenotype
• *normal* liver/biliary system phenotype (MGI Ref ID J:66648)
  • normal liver
• cardiovascular system phenotype
• *normal* cardiovascular system phenotype (MGI Ref ID J:66648)
  • normal heart

View Research Applications

Research Applications

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

Gulo^sfx related

Developmental Biology Research
Growth Defects
Internal/Organ Defects (brain)
Internal/Organ Defects (kidney)
Lymphoid Tissue Defects
Skeletal Defects

Immunology and Inflammation Research
Lymphoid Tissue Defects

Internal/Organ Research
Kidney Defects
Lymphoid Tissue Defects

Genes & Alleles

Gene & Allele Information

Allele Symbol		Gulosfx
Allele Name		spontaneous fracture
Allele Type		Spontaneous
Strain of Origin		BALB/cBy-scat
Gene Symbol and Name		Gulo, gulonolactone (L-) oxidase
Chromosome		14
Gene Common Name(s)		AU018375; BC028822; L-gulono-gamma-lactone oxidase; MGC:29968; MGC:37793; MGC:37880; cDNA sequence BC028822; expressed sequence AU018375; sfx; spontaneous fracture;
General Note		This spontaneous mutation appeared in a BALB/cBy-scat colony at The Jackson Laboratory. The scat and sfx mutations were separated from each other by backcrossing BALB/cBy-scat mice to BALB/cBy mice and observing F2 offspring for those that exhibited the sfx phenotype but not the scat phenotype.
Molecular Note		The mutation in the sfx mouse is a deletion that includes the entire Gulo gene. [MGI Ref ID J:95128]

Genotyping

Genotyping Information

Genotyping Protocols

Gulo^sfx, QPCR, vers. 1

Helpful Links

Optimizing PCR Protocols

References

References

Selected Reference(s)

Beamer WG; Rosen CJ; Bronson RT; Gu W; Donahue LR; Baylink DJ; Richardson CC; Crawford GC; Barker JE. 2000. Spontaneous fracture (sfx): a mouse genetic model of defective peripubertal bone formation Bone 27(5):619-26. [PubMed: 11062347]  [MGI Ref ID J:66648]

Additional References

Gulo^sfx related

Jiao Y; Li X; Beamer WG; Yan J; Tong Y; Goldowitz D; Roe B; Gu W. 2005. A deletion causing spontaneous fracture identified from a candidate region of mouse Chromosome 14. Mamm Genome 16(1):20-31. [PubMed: 15674730]  [MGI Ref ID J:95128]

Mohan S; Kapoor A; Singgih A; Zhang Z; Taylor T; Yu H; Chadwick RB; Chung YS; Donahue LR; Rosen C; Crawford GC; Wergedal J; Baylink DJ. 2005. Spontaneous fractures in the mouse mutant sfx are caused by deletion of the gulonolactone oxidase gene, causing vitamin C deficiency. J Bone Miner Res 20(9):1597-610. [PubMed: 16059632]  [MGI Ref ID J:112377]

Health & husbandry

Health & Colony Maintenance Information

Currently there no information available for this strain. This may be due to the supply level of this strain.

Purchasing information

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

Pricing

Supply Details

Standard Supply

Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.

Supply Notes

Cryorecovery of Strains Needing Progeny Testing. The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two untested males and two untested females (two pairs) will be recovered, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the overall recovery time to approximately 25 weeks. However, all pups recovered will be sent. Progeny testing is required to identify the genotype of mice of this strain, as a genotyping assay is not available. This type of testing involves breeding the recovered animals and assessing the phenotype of the offspring in order to identify animals carrying the mutation of interest. We can perform the progeny testing for you as a service or we can ship all recovered animals (at least two untested pairs) to you for progeny testing at your facility. If you perform the progeny testing, there is NO guarantee that a carrier will be identified. If we perform progeny testing as a service, additional breeding time will be required. In this case, when a male and female (one pair) are identified that carry the mutation, they and their offspring will be shipped. Delivery time for strains requiring progeny testing often exceeds 25 weeks and may take 12 months or more due to the difficulties in breeding some strains. The progeny testing cost is in addition to the recovery cost and is based on the number of boxes used and the time taken to produce the mice identified as carrying the mutation. Please note that identified pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Please contact Customer Service for more information on the cost of progeny testing for a strain: Tel: 1-800-422-6423 or 1-207-288-5845. Cryorecovery to establish a Dedicated Supply for greater quantities of mice One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 or 1-207-288-5845. This strain is included in the Mouse Mutant Resource collection.

Control Information

	Control
	Heterozygote from the colony
	Untested +/? from the colony
	001026 BALB/cByJ
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.

---

Ordering and Purchasing Information

      Purchasing Information
      JAX^® Mice Orders
      Surgical Services

Contact Information
Orders & Technical Support
Tel: 800.422.6423 or 207.288.5845
Fax: 207.288.6150
Technical Support Email Form

Terms of Use

Terms of Use

General Terms and Conditions

Contact information

General inquiries

Contracts Administration

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.