Strain Name:

B6;129-Rnu2-8nmf291/J

Stock Number:

005048

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Availability:

Cryopreserved - Ready for recovery

This ENU-induced mutant mouse strain expresses an altered Rnu2-8 U2 snRNA gene. Homozygous mice exhibit a progressive ataxia and neurodegeneration. This mutant line may have applications in studies related to neuron degeneration and the regulation of U2 snRNA gene processing.

Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Former Names B6;129-Rnu2nmf291    (Changed: 14-FEB-12 )
B6;129-nmf291/J    (Changed: 02-FEB-12 )
NMF291    (Changed: 15-DEC-04 )
Type Chemically Induced Mutation; Mutant Stock;
Additional information on Genetically Engineered and Mutant Mice.
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Specieslaboratory mouse
 
Donating Investigator Sue Ackerman,   The Jackson Laboratory

Description
U2 small nuclear RNA (Rnu2-8) is one of five small nuclear RNAs, which comprise the spliceosome machinery and are responsible for the splicing of pre-mRNAs. The ethylmethanesulfonate (EMS)-induced nmf291 allele is a 5 base pair deletion, which results in alternative splicing defects, including the retention of small introns. Mice homozygous for the mutation exhibit mild tremors beginning at 4 weeks of age and progress to truncal ataxia by 12 weeks of age. The ataxia is characterized by splayed hind feet, a lumbering gait and a tendency to intermittently jump into the air. Granule cell degeneration begins at 4 weeks of age and occurs mainly in the cerebellum, but later progresses to the dentate gyrus region of the hippocampus. Mice heterozygous for the mutation develop late onset (2 years) tremors and some granule cell degeneration. Standard pathology work-up on three mutants (84 -138 days of age) revealed severe loss of granule cells. Both female and male homozygotes breed, but the reproductive window is shortened by the progressive physical impairments, females may have difficulties taking care of litters. View video. This strain may be useful for studying pre-mRNA splicing and neurodegeneration.

Development
This mutation was induced in (C57BL/6J x 129S4/SvJae)F1 derived v6.4 ES cells via exposure to ethylmethanesulfonate (EMS)during a forward genetic screen for recessive neurological phenotypes at the Neuroscience Mutagenesis Facility at The Jackson Laboratory. The mutation results in a 5 base pair deletion between nucleotides 30 and 34 in a highly conserved region of the Rnu2-8 transcription unit. The deletion removes the first 2 nucleotides of the U2 consensus branch site recognition sequence (BRSR) and a 3 nucleotide linker between BRSR the U2/U6 helix. This strain has been backcrossed to C57BL/6J for two generations and was cryopreserved in 2004.

Control Information

  Control
   Wild-type from the colony
   000664 C57BL/6J (approximate)
 
  Considerations for Choosing Controls

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Rnu2-8nmf291/Rnu2-8+

        involves: 129S4/SvJae * C57BL/6J
  • behavior/neurological phenotype
  • tremors
    • mild tremors are observed in 2 year old mice   (MGI Ref ID J:179357)
  • nervous system phenotype
  • decreased cerebellar granule cell number   (MGI Ref ID J:179357)
  • neuron degeneration
    • apoptotic cerebellar granule cells are first observed in 1 month old mice, however, neuron loss is considerably less than in homozygous mice   (MGI Ref ID J:179357)
  • small cerebellum
    • overall size of the cerebellum is reduced in 2 year old mice   (MGI Ref ID J:179357)

Rnu2-8nmf291/Rnu2-8nmf291

        B6;129-Rnu2-8nmf291/J
  • behavior/neurological phenotype
  • abnormal gait
    • early manifestations of the mutant phenotype are a tendency to walk on the toes of the hind feet and a slight side-to-side sway; by approximately 11 weeks of age, mutant mice exhibit a staggering gait with a pronounced side-to-side sway that sometimes causes them to lose their balance and fall over   (MGI Ref ID J:87349)
  • nervous system phenotype
  • abnormal cerebellum morphology
    • standard pathology screen of three mutants aged 84-138 days revealed severe loss of granule cells   (MGI Ref ID J:87349)
  • muscle phenotype
  • progressive muscle weakness
    • mutant mice exhibit progressive hind limb weakness, evidenced by splaying of their hind legs during locomotion   (MGI Ref ID J:87349)

Rnu2-8nmf291/Rnu2-8nmf291

        involves: 129S4/SvJae * C57BL/6J
  • behavior/neurological phenotype
  • ataxia
    • mice develop mild tremors by 8 weeks age and progress to truncal ataxia by 12 weeks of age   (MGI Ref ID J:179357)
  • nervous system phenotype
  • abnormal cerebellar granule cell morphology
    • granule cells with pyknotic nuclei are observed beginning at 4 weeks of age   (MGI Ref ID J:179357)
    • decreased cerebellar granule cell number
      • granule cells undergo apoptosis beginning at P30, by 4 months of age most granule cells have degenerated   (MGI Ref ID J:179357)
  • neuron degeneration
    • cerebellar granule cells undergo apoptosis beginning at P30, by 4 months of age most granule cells have degenerated   (MGI Ref ID J:179357)
    • granule cell degeneration in the dentate gyrus region of the hippocampus is observed in 4 month old mice   (MGI Ref ID J:179357)
  • small cerebellum
    • overall size of cerebellum is dramatically reduced in 4 month old mice   (MGI Ref ID J:179357)
View Research Applications

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

Rnu2-8nmf291 related

Neurobiology Research
Ataxia (Movement) Defects
Cerebellar Defects
Neurodegeneration
Neuroscience Mutagenesis Facility Strain

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Rnu2-8nmf291
Allele Name neuroscience mutagenesis facility, 291
Allele Type Chemically induced (other)
Strain of Origin(C57BL/6J x 129S4/SvJae)F1
ES Cell Line Namev6.4
ES Cell Line Strain(C57BL/6J x 129S4/SvJae)F1
Gene Symbol and Name Rnu2-8, U2 small nuclear RNA 8
Chromosome 11
Gene Common Name(s) neuroscience mutagenesis facility, 291; nmf291;
Molecular Note This phenotypic allele was identified in an ethylmethanesulfonate (EMS) mutagenesis screen for neurological phenotypes. The molecular defect is a 5 base pair deletion between nucleotides 30 and 34 in a highly conserved region located in the U2 consensusbranch site sequence (BSRS) and the linker region between the BSRS and the U2/U6 helix. [MGI Ref ID J:179357]

Genotyping

Genotyping Information

Genotyping Protocols

JR5048 sequencing assay, Standard PCR


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Jia Y; Mu JC; Ackerman SL. 2012. Mutation of a U2 snRNA gene causes global disruption of alternative splicing and neurodegeneration Cell 148:296-308. [PubMed: 22265417]  [MGI Ref ID J:179357]

Additional References

Rnu2-8nmf291 related

JAX Neuroscience Mutagenesis Facility. 2004. Heritable mouse mutants from JAX NMF ENU Mutagenesis Program MGI Direct Data Submission :.  [MGI Ref ID J:87349]

Health & husbandry

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Health & Colony Maintenance Information

Animal Health Reports

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

Colony Maintenance

Breeding & HusbandryWhile maintaining a live colony, these mice are bred as homozygotes, however,the reproductive window is shortened by the progressive physical impairments.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $2450.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Strains Requiring Specialized Phenotyping.
    At least two untested males and two untested females (two pairs) will be recovered from cryopreserved stocks and will require specialized phenotyping in order to identify animals carrying the mutation of interest. We do not perform the phenotyping for this strain. Upon completion of the cryorecovery process, we will ship you all of the recovered mice (a minimum of two pair, typically eight or more). We cannot guarantee that you will receive or be able to identify animals of the phenotype of interest. Please be advised that a new order and cryorecovery fee will be necessary to recover additional mice, if needed. The typical cryorecovery period required is 10 weeks. However, because recovery efficiency and viability can vary, a second cryorecovery sometimes may be required in order to complete this order, which may extend the time for order completion to 15 to 20 weeks. If this situation occurs, we will notify you of the delay. 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. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.
Pricing for International shipping destinations View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $3185.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Strains Requiring Specialized Phenotyping.
    At least two untested males and two untested females (two pairs) will be recovered from cryopreserved stocks and will require specialized phenotyping in order to identify animals carrying the mutation of interest. We do not perform the phenotyping for this strain. Upon completion of the cryorecovery process, we will ship you all of the recovered mice (a minimum of two pair, typically eight or more). We cannot guarantee that you will receive or be able to identify animals of the phenotype of interest. Please be advised that a new order and cryorecovery fee will be necessary to recover additional mice, if needed. The typical cryorecovery period required is 10 weeks. However, because recovery efficiency and viability can vary, a second cryorecovery sometimes may be required in order to complete this order, which may extend the time for order completion to 15 to 20 weeks. If this situation occurs, we will notify you of the delay. 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. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.
View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Control Information

  Control
   Wild-type from the colony
   000664 C57BL/6J (approximate)
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

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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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