Strain Detail Sheet

Strain Name    :

B6;129-Ireb2tm1Roua/Mmmh

Stock Number :

030490-MU

Gene Information

Gene Details [Including genotyping protocols]

(provided by MGI)
Allele Symbol: Ireb2tm1Roua
Name: targeted mutation 1, Tracey Rouault
Alteration at locus: Knockout
Gene Symbol: Ireb2
Name: iron responsive element binding protein 2
Chromosome: 9
Alteration at locus: Knockout

Genetic Alterations:
Embryonic stem cells were transfected with an Ireb2-mutant construct made using a genomic Ireb2 clone derived from a 129/Sv library and the targeting vector pPNT. Donor subcloned a 1.8-kb SstI (blunted)-BglII fragment of the Ireb2 clone, containing parts of exons 2 and 3, into the EcoRI (blunted)-BamHI sites of pPNT, generating the 5

Genotype Determination:

ES Cell Line: D3 derived from 129S4/SvJae

Strain Description [Including phenotype, strain background, strain development and suggested control mice]

Phenotype

Homozygous phenotype: progressive neurodegenerative disorder - cerebellar ataxia, axonopathy iron limited erythropoiesis, anemia, erythropoietic protoporphyria.

Heterozygous phenotype: unaffected.


Mammalian Phenotype Terms:(provided by MGI)      Extend all MPTs
      assigned by genotype

The following phenotype information may relate to one or more alleles on a genetic background differing from this MMRRC strain.
Ireb2tm1Roua/Ireb2tm1Roua
        involves: C57BL/6
  • homeostasis/metabolism phenotype
    • abnormal iron homeostasis (MGI Ref IDs J:87889, J:67313)
      • serum ferritins significantly elevated at 6 and 9 months of age and elevated at 12 months of age (MGI Ref ID J:67313)
      • ferritins not repressed in liver, kidney, and brown fat on a low iron diet (MGI Ref ID J:87889)
      • marked elevation of ferritin in the cerebellum regardless of diet (MGI Ref ID J:87889)
      • hematocrit, serum iron, transferring, serum ceruloplasmin, creatine phosphokinase all normal (MGI Ref ID J:67313)
      • abnormal brain iron level (MGI Ref ID J:67313)
        • iron accumulation in cerebellum precedes and co-localizes with axonal degeneration
        • iron accumulations in neuronal bodies of gray matter of thalamus, deep cerebellar nuclei, and colliculi
      • abnormal intestinal iron level (MGI Ref ID J:67313)
        • increased iron in the duodenum
      • increased liver iron level (MGI Ref ID J:67313)
  • behavior/neurological phenotype
    • abnormal locomotor activity (MGI Ref ID J:67313)
      • abnormal gait (MGI Ref ID J:67313)
        • unsteady, wide based gait from about 6 months of age on
      • ataxia (MGI Ref ID J:67313)
        • gradual onset of ataxia after 6 months of age
      • bradykinesia (MGI Ref ID J:67313)
    • abnormal posture (MGI Ref ID J:67313)
    • decreased grip strength (MGI Ref ID J:67313)
      • severely impaired
    • impaired balance (MGI Ref ID J:67313)
      • severely impaired balance
    • tremors (MGI Ref ID J:67313)
  • skeleton phenotype
    • kyphosis (MGI Ref ID J:67313)
      • subtle kyphosis develops after 6 months of age
  • nervous system phenotype
    • abnormal brain iron level (MGI Ref ID J:67313)
      • iron accumulation in cerebellum precedes and co-localizes with axonal degeneration
      • iron accumulations in neuronal bodies of gray matter of thalamus, deep cerebellar nuclei, and colliculi
    • abnormal cerebellum morphology (MGI Ref ID J:67313)
      • iron accumulation in cerebellum precedes and co-localizes with axonal degeneration
      • Purkinje cell degeneration (MGI Ref ID J:67313)
        • remaining cells show signs of degeneration
      • decreased Purkinje cell number (MGI Ref ID J:67313)
        • partial loss of Purkinje cells
    • abnormal corpora quadrigemina morphology (MGI Ref ID J:67313)
      • iron accumulation in neuronal bodies of the gray matter
      • neurons show loss of nuclear membrane definition, nuclear shrinkage, formation of cytoplasmic vacuoles
    • abnormal thalamus morphology (MGI Ref ID J:67313)
      • iron accumulation in neuronal bodies of the gray matter
      • neurons show loss of nuclear membrane definition, nuclear shrinkage, formation of cytoplasmic vacuoles
  • liver/biliary system phenotype
    • liver/biliary system phenotype (MGI Ref ID J:67313)
      • liver function was unexpectedly normal
      • increased liver iron level (MGI Ref ID J:67313)
  • hearing/vestibular/ear phenotype
    • abnormal vestibular system physiology (MGI Ref ID J:67313)
      • vestibular dysfunction
  • digestive/alimentary phenotype
    • abnormal intestinal iron level (MGI Ref ID J:67313)
      • increased iron in the duodenum

Strain of Origin: B6;129S4

Strain genetic background: B6;129S4

Suggested Control Mice:

  • Wildtype littermates

Research Applications

  • Hematology
  • Metabolism
  • Models for Human Disease
  • Neurobiology

Strain Origin

Donor: Tracey A. Rouault, M.D., NICHD

Primary Reference:

LaVaute T, Smith S, Cooperman S, Iwai K, Land W, Meyron-Holtz E, Drake SK, Miller G, Abu-Asab M, Tsokos M, Switzer R 3rd, Grinberg A, Love P, Tresser N, Rouault TA. Targeted deletion of the gene encoding iron regulatory protein-2 causes misregulation of iron metabolism and neurodegenerative disease in mice. Nat Genet. 2001 Feb;27(2):209-14. (Medline PMID:11175792 )

Colony and Husbandry Information

Special Considerations

None.

Health Status Report

Mice recovered from a cryo-archive will have health surveillance performed on recipient females. Health reports will be provided prior to shipment. If you require additional health status information, please email mmrrc@missouri.edu.

Order Request Information

Availability Level

Limited quantities of breeder mice (recovered litter) are available from a cryoarchive; recovered litter usually available to ship in 3 to 4 months.

Conditions of Distribution [Including applicable technology transfer agreements]

Distribution of this strain requires submission of the MMRRC Conditions of Use (COU). A link to the COU web form will be provided via email after an order has been placed; the form should be completed then or the email forwarded to your institutional official for completion.

The donor or their institution limits the distribution to non-profit institutions only.

Fees

Additional charges may apply for any special requests. Shipping costs are in addition to the basic distribution/resuscitation fees. Information on shipping costs and any additional charges will be provided by the supplying MMRRC facility.

Click button to Request this one strain. (Use the MMRRC Catalog Search to request more than one strain.)
MMRRC Item # - Description Distribution
Fee/unit (US $)
Units Notes
030490-MU-RESUSLitter recovered from cryo-archive
$2,022.00
Non-Profit
Litter Recovered litter1; additional fees for any special requests.
030490-MU-SPERMCryo-preserved spermatozoa
$437.00
Non-Profit
Aliquot Approximate quantity.2

1 The distribution fee covers the expense of resuscitating mice from the cryo-archive; you will receive the resulting litter. The litter will contain at minimum one mutant carrier; the actual number of animals and the gender and genotype ratios will vary. (Typically, multiple breeder pairs can be established from the recovered litter.) Prior to shipment, the MMRRC will provide information about the animals recovered. If you anticipate or find that you need to request specific genotypes, genders or quantities of mice in excess of what is likely from a resuscitated litter, you may discuss available options and pricing with the supplying MMRRC facility.

2 An aliquot is one straw or vial with sufficient sperm to recover at least one litter of mice, as per provided protocols, when performed at the MMRRC facility. The MMRRC makes no guarantee concerning the success of these procedures when performed outside the MMRRC facilities.

3 An aliquot contains a sufficient number of embryos (in one or more vials and based on the transfer success rate of the MMRRC facility) to transfer to at least two recipients. The MMRRC makes no guarantee concerning embryo transfer success experienced in the recipient investigator's laboratory. Neither gender nor genotype ratios are guaranteed.

To request material from the MMRRC: Please fill out our on-line request form (accessible from the catalog search results page, or click the Request this Strain button in the fees section above). If you have questions or need assistance completing this form, you may call Customer Service at (800) 910-2291 (in USA or Canada) or (530) 757-5710 (international calls). Before you call, please have with you: the MMRRC item number, quantity needed, Bill-to and Ship-to contact information.



To request material from the MMRRC: Please fill out our on-line request form (accessible from the catalog search results page, or click the Request this Strain button in the fees section). If you have questions or need assistance completing this form, you may call Customer Service at (800) 910-2291 (in USA or Canada) or (530) 757-5710 (international calls). Before you call, please have with you: the MMRRC item number, quantity needed, Bill-to and Ship-to contact information.



The MMRRC is a collaborative effort, funded by grants from DPCPSI of the NIH.

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