Strain Detail Sheet

Strain Name    :

B6.129X1-Runx2tm1Ldq/Mmmh

Stock Number :

032650-MU

Gene Information

Gene Details [Including genotyping protocols]

(provided by MGI)
Allele Symbol: Runx2tm1Ldq
Name: targeted mutation 1, L Darryl Quarles
Alteration at locus: Knockout
Gene Symbol: Runx2
Name: runt related transcription factor 2
Chromosome: 17
Alteration at locus: Knockout

Genetic Alterations:
Targeted deletion of Runx2-II isoform in Runx2 gene locus. The P1 promoter and Runx2-II exon 1 has been deleted in this strain.

Genotype Determination:

ES Cell Line: Not specified

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

Phenotype

Homozygous phenotype: The homozygous Runx2-II knock-out mice are perinatal lethal, and have severe skeletal defects in both intramembraous and endochondral bone formation.

Heterozygous phenotype: The heterzygous phenotype in Runx2-II mice leads to low turn-over osteopenia in postnatal bone formation.


Mammalian Phenotype Terms:(provided by MGI)      Extend all MPTs
      assigned by genotype
Runx2tm1Ldq/Runx2+
        involves: C57BL/6J
  • growth/size phenotype
    • decreased birth body size (MGI Ref ID J:89822)
      • newborn heterozygotes have significantly lower body weights and lengths compared to wild-type littermates but are larger than homozygous mutants
      • decreased birth weight (MGI Ref ID J:89822)
  • limbs/digits/tail phenotype
    • abnormal tibia morphology (MGI Ref ID J:89822)
      • trabecular bone volume/tissue volume and trabecular thickness are significantly reduced in heterozygous mice compared to wild-type mice
      • no other gross skeletal abnormalities were detected in heterozygous mice
  • skeleton phenotype
    • abnormal tibia morphology (MGI Ref ID J:89822)
      • trabecular bone volume/tissue volume and trabecular thickness are significantly reduced in heterozygous mice compared to wild-type mice
      • no other gross skeletal abnormalities were detected in heterozygous mice
    • abnormal trabecular bone morphology (MGI Ref ID J:89822)
      • trabecular bone volume/tissue volume and trabecular thickness are significantly reduced in heterozygous mice compared to wild-type mice
Runx2tm1Ldq/Runx2tm1Ldq
        involves: C57BL/6J
  • mortality/aging
    • partial postnatal lethality (MGI Ref ID J:89822)
      • about 80% of homozygotes die in the first wee k after birth apparently of respiratory failure
    • premature death (MGI Ref ID J:89822)
      • almost all homozygotes die by 6 weeks after birth
  • craniofacial phenotype
    • abnormal cranium morphology (MGI Ref ID J:89822)
      • cranial bones derived from mesenchymal precursors are not affected
      • abnormal hyoid bone morphology (MGI Ref ID J:89822)
      • abnormal nasal bone morphology (MGI Ref ID J:89822)
        • nasal bone formation is impaired in homozygous mutants
      • absent occipital bone (MGI Ref ID J:89822)
        • the occipital bones are absent in homozygous mutants
      • absent zygomatic arch (MGI Ref ID J:89822)
        • the zygomatic arches are absent in homozygous mutants
      • large anterior fontanelle (MGI Ref ID J:89822)
        • the anterior fontanelle is wider in homozygous mutants compared to wild-type mice
  • growth/size phenotype
    • decreased birth body size (MGI Ref ID J:89822)
      • newborn homozygotes have significantly lower body weights and lengths compared to wild-type littermates
      • decreased birth weight (MGI Ref ID J:89822)
  • limbs/digits/tail phenotype
    • abnormal long bone epiphysis morphology (MGI Ref ID J:89822)
      • the zone of hypertrophic chondrocytes is wider in long bones from homozygous mutants compared to wild-type mice
    • abnormal phalanx morphology (MGI Ref ID J:89822)
      • ossification centers are absent in phalangeal bones
    • abnormal tibia morphology (MGI Ref ID J:89822)
      • the primary trabeculae in the metaphyseal region are diminished in homozygous mutants compared to wild-type mice
      • the cortical bone of the mid-shaft region is thinner and more porous in homozygous mutants compared to wild-type mice
    • decreased length of long bones (MGI Ref ID J:89822)
      • the long bones are shorter in homozygous mutants compared to wild-type mice
  • skeleton phenotype
    • abnormal skeleton morphology (MGI Ref ID J:89822)
      • homozygotes display severe abnormalities of the intracartilaginous bones, however intramembranous bones and cortical bones derived from mesenchymal precursors are not affected
      • the overall skeletal phenotype is less severe than that reported in mice lacking both isoforms of Runx2
      • abnormal bone ossification (MGI Ref ID J:89822)
        • ossification centers are absent in phalangeal bones
        • osteoblast maturation ex vivo is abnormal in cells from homozygous mice
        • delayed bone ossification (MGI Ref ID J:89822)
          • intracartilaginous ossification of the caudal spine is delayed
      • abnormal clavicle morphology (MGI Ref ID J:89822)
        • the distal clavicles are abnormal in homozygous mutants
      • abnormal cranium morphology (MGI Ref ID J:89822)
        • cranial bones derived from mesenchymal precursors are not affected
        • abnormal hyoid bone morphology (MGI Ref ID J:89822)
        • abnormal nasal bone morphology (MGI Ref ID J:89822)
          • nasal bone formation is impaired in homozygous mutants
        • absent occipital bone (MGI Ref ID J:89822)
          • the occipital bones are absent in homozygous mutants
        • absent zygomatic arch (MGI Ref ID J:89822)
          • the zygomatic arches are absent in homozygous mutants
        • large anterior fontanelle (MGI Ref ID J:89822)
          • the anterior fontanelle is wider in homozygous mutants compared to wild-type mice
      • abnormal long bone epiphysis morphology (MGI Ref ID J:89822)
        • the zone of hypertrophic chondrocytes is wider in long bones from homozygous mutants compared to wild-type mice
      • abnormal phalanx morphology (MGI Ref ID J:89822)
        • ossification centers are absent in phalangeal bones
      • abnormal rib morphology (MGI Ref ID J:89822)
        • the distal ribs are abnormal in homozygous mutants
      • abnormal tibia morphology (MGI Ref ID J:89822)
        • the primary trabeculae in the metaphyseal region are diminished in homozygous mutants compared to wild-type mice
        • the cortical bone of the mid-shaft region is thinner and more porous in homozygous mutants compared to wild-type mice
      • abnormal trabecular bone morphology (MGI Ref ID J:89822)
        • the primary trabeculae in the metaphyseal region are diminished in homozygous mutants compared to wild-type mice
      • decreased compact bone thickness (MGI Ref ID J:89822)
        • the cortical bone of the mid-shaft region is thinner and more porous in homozygous mutants compared to wild-type mice
      • decr eased length of long bones (MGI Ref ID J:89822)
        • the long bones are shorter in homozygous mutants compared to wild-type mice

Strain of Origin: 129X1, B6 mix

Strain genetic background: C57BL/6J

Strain Development: The original founder strain has been backcrossed with C57BL/6J for 12 generations, and then the current strain has been maintained for 6 sib-mated generations.

Suggested Control Mice:

  • Wildtype littermates

Research Applications

  • Cancer
  • Cell Biology
  • Developmental Biology
  • Research Tools

Strain Origin

Donor: L. Darryl Quarles, M.D., University of Tennessee Health Science Center

Primary Reference:

  • Xiao ZS, Hjelmeland AB, Quarles LD. 2004, Selective deficiency of the "bone-related" Runx2-II unexpectedly preserves osteoblast-mediated skeletogenesis. J Biol Chem 279(19):20307- 20313. (Medline PMID: 15007057)
  • Xiao ZS, Awad, H.A., Liu, S., Mahlios, J., Zhang, S., Guilak, F., Mayo, M.S., and Quarles, L.D. 2005, Selective Runx2-II deficiency leads to low-turnover osteopenia in adult mice. Dev Biol 283:345-356. (Medline PMID: 15936013 )
  • Zhang SQ, Xiao ZS, Luo JM, He N, Mahlios J, Quarles L.D. 2009, Dose-dependent effects of Runx2 on bone development. J Bone Miner Res. Nov;24(11):1889-904. (Medline PMID: 19419310)

Colony and Husbandry Information

Special Considerations

Sib-mating. Mice mated at ages between 6-24 weeks.

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
032650-MU-RESUSLitter recovered from cryo-archive
$2,022.00
Non-Profit
Litter Recovered litter1; additional fees for any special requests.
032650-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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Generated: 04/23/2014