Overview

Also Known As: spontaneous fracture 2 Jackson

This strain has been discontinued, please refer to Stock No. 004317 for a different allele of this gene on a different genetic background or search the JAX^® Mice Database for an alternative strain.

Genetic overview

Genetic Background	Generation

Dsp^rul

Allele Type	Gene Symbol	Gene Name
Spontaneous (Hypomorph)	Dsp	desmoplakin

Allele Type	Gene Symbol	Gene Name
Spontaneous	Gulo	gulonolactone (L-) oxidase

Research Applications

Dermatology Research
Developmental Biology Research
Internal/Organ Research
Cardiovascular Research
Cell Biology Research

View All Research Applications

Details

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.

Detailed 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 Suggestions

+/? from the colony

Additional Information

Considerations for Choosing Controls

Selected References

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 SubmissionMGI: J:96441

View All References

Genetics

Dsp^rul

Allele Symbol: Dsp^rul

Allele Name	ruffled
Allele Type	Spontaneous (Hypomorph)
Allele Synonym(s)	ruffled; Dsp^rul
Gene Symbol and Name	Dsp, desmoplakin
Gene Synonym(s)	expressed sequence AA407887; 5730453H04Rik; 5730453H04Rik; expressed sequence AW109828; RIKEN cDNA 2300002E22 gene; expressed sequence AA407888; 2300002E22Rik; 2300002E22Rik; DP; RIKEN cDNA 5730453H04 gene; AW109828; AA407887; AA407888; DCWHKTA; ruffled; rul; rul
Strain of Origin	RB156Bnr/Ei
Chromosome	13
Molecular Note	A spontaneous insertion of TGTCAGAA in Chromosome 13 position 38,288,978 causes a frameshift beginning in the last exon, resulting in the insertion of 4 novel amino acids then a premature stop codon that yields a C-terminal truncation of the protein, which is predicted to have partial function with spectrin repeat elements and chromosome segregation ATPase domain intact but partial loss of the plectrin repeats, and western blot analysis shows an altered mutant isoform.

Gulo^sfx-2J

Allele Symbol: Gulo^sfx-2J

Allele Name	spontaneous fracture 2 Jackson
Allele Type	Spontaneous
Allele Synonym(s)	Gulo^sfx-2J; spontaneous fracture 2 Jackson
Gene Symbol and Name	Gulo, gulonolactone (L-) oxidase
Gene Synonym(s)	BC028822; cDNA sequence BC028822; MGC:29968; MGC:37793; MGC:37880; sfx; L-gulono-gamma-lactone oxidase; sfx; expressed sequence AU018375; AU018375; spontaneous fracture; SCURVY; GULO
Strain of Origin	RB156Bnr/Ei-Dsp^rul/GrsrJ
Chromosome	14
General Note	The ruffled mutation in the background strain is still segregating in the RB156BNR/Ei-rul/J- Gulo^sfx-2J strain and when homozygous causes the Gulo^sfx-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 Gulo^sfx demonstrated that this is an additional allele of Gulo.

Disease/Phenotype

Disease Terms

Research Areas By Genotype

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

Genotype: Dsp^rul related

Dermatology Research
- Skin and Hair Texture Defects
- Other
Developmental Biology Research
- Defects in Cell Adhesion Molecules
- Skin and Hair Texture Defects
- Internal/Organ Defects
  - heart
  - skin
Internal/Organ Research
- Heart Abnormalities
Cardiovascular Research
- Heart Abnormalities
  - tachycardia
Cell Biology Research
- Defects in Cell Adhesion Molecules

Genotype: Gulo^sfx-2J related

Developmental Biology Research
- Growth Defects
  - Growth Defects (homozygous)
- Skeletal Defects

Mammalian Phenotype Terms by Genotype

The following phenotype relates to a compound genotype created using this strain

Genotype: Gulo^sfx-2J/Gulo^sfx-2J
RB156Bnr/Ei Dsp Gulo/GrsrJ

behavior/neurological phenotype

abnormal gait
- at 4-5 weeks of age mice begin to hobble about their cage

hindlimb paralysis
- between 5 and 8 weeks of age the mutants develop rear limb paralysis

vision/eye phenotype

abnormal retina morphology
- rosettes and wavy outer nuclear layer of retinas; this phenotype may also be characteristic of the background strain

cataract
- cataracts on both eyes were noted; however, this is a characteristic of the background strain and may not be due to the sfx mutation

growth/size/body region phenotype

decreased body size
- at 4-5 weeks of age when the mutants appear smaller than their control littermates

limbs/digits/tail phenotype

femur fracture
- complete fractures of the femur, in particular at the knee near the epiphysis and beneath the growth plate

mortality/aging

premature death
- many die by 8 weeks of age

skeleton phenotype

abnormal bone mineralization
- mineralized callus; extensive at the fracture sites

abnormal trabecular bone morphology
- absence of trabeculae; forelimbs and spine were less affected than the rear leg

decreased bone mineral density
- very low amounts of mineral were detected in the overall mutant skeleton compared to controls

decreased compact bone thickness
- 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

femur fracture
- complete fractures of the femur, in particular at the knee near the epiphysis and beneath the growth plate

rickets
- severe osteolysis with fibrous osteodystrophy was observed

Genotype: Dsp^rul/Dsp⁺
RB156Bnr/Ei-Dsp/GrsrJ

cardiovascular system phenotype

abnormal heart echocardiography feature
- Compared with 4-week-old heterozgyotes, 34-week-old heterozygotes have increased RR interval, PR interval, QRS interval, Q amplitude T amplitude and RS amplitude

decreased heart rate
- Compared with 4-week-old heterozgyotes, which have an average heart rate of 837 bpm, 34-week-old heterozygotes have a decreased average heart rate of 737 bpm

References

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 SubmissionMGI: J:96441

Additional - Dsp^rul related

Additional - Gulo^sfx-2J related

Technical Support

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Genotyping Protocols
- Genotyping resources and troubleshooting

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Also Known As: spontaneous fracture 2 Jackson

Genetic overview

Research Applications

Important Note

Detailed Description

Development

Control Suggestions

Additional Information

Selected References

Dsprul

Allele Symbol: Dsprul

Gulosfx-2J

Allele Symbol: Gulosfx-2J

Disease Terms

Research Areas By Genotype

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

Genotype: Dsprul related

Genotype: Gulosfx-2J related

Mammalian Phenotype Terms by Genotype

Genotype: Gulosfx-2J/Gulosfx-2JRB156Bnr/Ei Dsp Gulo/GrsrJ

behavior/neurological phenotype

vision/eye phenotype

growth/size/body region phenotype

limbs/digits/tail phenotype

mortality/aging

skeleton phenotype

Genotype: Dsprul/Dsp+RB156Bnr/Ei-Dsp/GrsrJ

cardiovascular system phenotype

References

Additional - Dsprul related

Additional - Gulosfx-2J related

Genotyping Protocols

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

Dsp^rul

Allele Symbol: Dsp^rul

Gulo^sfx-2J

Allele Symbol: Gulo^sfx-2J

Genotype: Dsp^rul related

Genotype: Gulo^sfx-2J related

Genotype: Gulo^sfx-2J/Gulo^sfx-2J
RB156Bnr/Ei Dsp Gulo/GrsrJ

Genotype: Dsp^rul/Dsp⁺
RB156Bnr/Ei-Dsp/GrsrJ

Additional - Dsp^rul related

Additional - Gulo^sfx-2J related