Description

Strain Information

Former Names RB156Bnr/Ei rul-sfx2J/J    (Changed: 21-MAR-05 ) Type Robertsonian; Additional information on Mice with Chromosomal Aberrations. Type Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered Mutant Mice. Species laboratory mouse Generation F?+111+F10 (07-DEC-07)

Important Note
This strain is still segregating for rul which causes a ruffled, sparse fur appearance. This genetic background is homozygous for Robertsonian translocations Rb(1.3)1Bnr, Rb(8.12)5Bnr, and Rb(9.14)6Bnr.

Description
The phenotype of the sfx^2J remutation is identifiable at 4-5 weeks of age when the mutants appear smaller than their control littermates and begin to hobble about their cage. Between 5 and 8 weeks of age the mutants develop rear limb paralysis and many die by 8 weeks of age. The phenotypic characteristics of this mutation are similar to the original mutation spontaneous fracture (Gulo^sfx ) except for the eye phenotype described below that is inherent in the background strain on which the sfx^2J mutation arose. Mice homozygous for the sfx^2J remutation also had cataracts and rosettes and wavy outer nuclear layer of retinas. The eyes of a female mutant were checked using an opthalmascope and it was found to have cataracts on both eyes (as the strain background has characteristically). It has not yet been determined if the rosettes and wavy outer nuclear layer of the retinas is also characteristic of the background strain.

Development
Mus domesticus trapped in Val Poschiavo were found to have seven Robertsonian translocations. One male descended from this stock was bred with a female from the random-bred Swiss NMRI/Han stock. These F1 offspring were sent from Alfred Gropp at Medizinische Hochschule in Lubeck to Thomas Roderick at The Jackson Laboratory where they were intercrossed and lines were separated at the F2 generation for inbreeding. One of the recombinant inbred lines that resulted was RB156BNR/Ei which is homozygous for Rb(1.3)1Bnr, Rb(8.12)5Bnr, and Rb(9.14)6Bnr. When RB156BNR/Ei reached F?+64 in 1989, a mutation causing a sparse, curly haired phenotype was observed, named ruffled (rul), and the mutant strain was maintained segregating for rul. In 2002 when this mutant strain was at F?+64+47 the spontaneous fracture 2 Jackson mutation arose spontaneously in this strain. It has been maintained via progeny testing to identify heterozygous breeders.

Control Information

	Control
	+/? from the colony
Considerations for Choosing Controls

Related Strains

Strains carrying   rul allele

005362

RB156Bnr/Ei-rul/J

View Strains carrying   rul     (1 strain)

Strains carrying other alleles of Gulo

004317

BALB/cBy-Gulosfx/J

View Strains carrying other alleles of Gulo     (1 strain)

Additional Web Information

Genetic Quality Control Annual Report

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

Gulo^sfx-2J/Gulo^sfx-2J

        RB156Bnr/Ei rul-Gulo^sfx-2J/J

• life span-post-weaning/aging
• premature death (MGI Ref ID J:96441)
  • many die by 8 weeks of age
• behavior/neurological phenotype
• abnormal gait (MGI Ref ID J:96441)
  • at 4-5 weeks of age mice begin to hobble about their cage
• hindlimb paralysis (MGI Ref ID J:96441)
  • between 5 and 8 weeks of age the mutants develop rear limb paralysis
• growth/size phenotype
• decreased body size (MGI Ref ID J:96441)
  • at 4-5 weeks of age when the mutants appear smaller than their control littermates
• limbs/digits/tail phenotype
• abnormal femur morphology (MGI Ref ID J:96441)
  • complete fractures of the femur, in particular at the knee near the epiphysis and beneath the growth plate
• skeleton phenotype
• abnormal bone mineralization (MGI Ref ID J:96441)
  • mineralized callus; extensive at the fracture sites
• rickets (MGI Ref ID J:96441)
  • severe osteolysis with fibrous osteodystrophy was observed
• abnormal cancellous bone morphology (MGI Ref ID J:96441)
  • absence of trabeculae; forelimbs and spine were less affected than the rear leg
• abnormal femur morphology (MGI Ref ID J:96441)
  • complete fractures of the femur, in particular at the knee near the epiphysis and beneath the growth plate
• decreased bone density (MGI Ref ID J:96441)
  • very low amounts of mineral were detected in the overall mutant skeleton compared to controls
• decreased cortical bone thickness (MGI Ref ID J:96441)
  • between 4 and 8 weeks of age mice show thin cortical bone; in particular, the long bones were affected; forelimbs and spine were less affected than the rear legs
• vision/eye phenotype
• abnormal retina morphology (MGI Ref ID J:96441)
  • rosettes and wavy outer nuclear layer of retinas; this phenotype may also be characteristic of the background strain
• cataracts (MGI Ref ID J:96441)
  • cataracts on both eyes were noted; however, this is a characteristic of the background strain and may not be due to the sfx mutation

View Research Applications

Research Applications

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

rul related

Dermatology Research
Skin and Hair Texture Defects

Genes & Alleles

Gene & Allele Information

Allele Symbol		Gulosfx-2J
Allele Name		spontaneous fracture 2 Jackson
Allele Type		Spontaneous
Strain of Origin		RB156Bnr/Ei-rul/J
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		The ruffled mutation in the background strain is still segregating in the RB156BNR/Ei-rul/J- Gulosfx-2J strain and when homozygous causes the Gulosfx-2J mice to have a ruffled looking coat. The phenotype of this remutation is more severe than the original sfx mutation, suggesting a modifying gene may be present in the RB156BNR/Ei-rul/J background strain.
Molecular Note		This spontaneous mutation arose at The Jackson Laboratory in 2002. A noncomplementation test with Gulosfx demonstrated that this is an additional allele of Gulo.
Allele Symbol		rul
Allele Name		ruffled
Allele Type		Spontaneous
Strain of Origin		RB156Bnr/Ei
Molecular Note		This spontaneous mutation was discovered in 1989 at The Jackson Laboratory.

Genotyping

Genotyping Information

This strain will not have a genotyping protocol or one is not currently available.

Helpful Links

Optimizing PCR Protocols

References

References

Selected Reference(s)

Harris BS; Ward-Bailey PF; Donahue LR; Johnson KR; Bronson RT; Davisson MT. 2005. Spontaneous fracture 2 Jackson (sfx2J), a second mutation of the gulonolactone oxidase gene (Gulo) MGI Direct Data Submission :.  [MGI Ref ID J:96441]

Original article from The Mouse Mutant Resource

Additional References

rul related

Harris BS; Ward-Bailey PF; Johnson KR; Bronson RT; Davisson MT. 2005. A New Hair Mutation Named Ruffled Maps to Chromosome 13 MGI Direct Data Submission :.  [MGI Ref ID J:96444]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           A1

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	Homozygotes are not available for this strain. Usually shipped between four and eight weeks of age. This strain is included in the Mouse Mutant Resource collection.
Important Note	This strain is still segregating for rul which causes a ruffled, sparse fur appearance. This genetic background is homozygous for Robertsonian translocations Rb(1.3)1Bnr, Rb(8.12)5Bnr, and Rb(9.14)6Bnr.

Control Information

	Control
	+/? 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

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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.

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