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Strain Detail Sheet

Published: 08/24/2026
Revised: 08/24/2026

Strain Name:
C57BL/6J-Runx2em1Shpl/Mmnc
Stock Number:
076161-UNC
Citation ID:
RRID:MMRRC_076161-UNC
Other Names:
Runx2 (GFP) knock-in

Strain Information

Strain Quality Control

QUALITY CONTROL OF C57BL/6J-Runx2em1Shpl/Mmnc  |  University of North Carolina at Chapel Hill
Last Updated:
Strain Data and Information Information by Submitter Assessed by MMRRC1,2
Published Provided
Allele-specific genotype3n.d.
Genetic backgroundn.d.
Viability of genotypes available for distributionn.d.
Specific Pathogen- Status n.d.
Recoverability of cryopreserved sperm/embryos4 n.d.
Gene or allele sequence3 n.d.
Gene or allele expression3n.d.
Gene or allele function3n.d.
Observable and/or measurable phenotypesn.d.
Fertility of genotypes available for distribution n.d.
Fecundity/breeding performance n.d.

1 When indicated as "assessed by MMRRC" ("YES"), please note that the information presented on this strain is to the best of our knowledge correct and up-to-date at the the MMRRC Distribution Center assigned to maintain and distribute this strain. This information is subject to change due to breeding, maintenance, and other actions. Please direct any questions on the information presented in this table to the MMRRC Distribution Center.

2 If an assessment has not been performed by the MMRRC (as indicated by "NO"), investigators may request specific testing for a fee. Requests should be submitted directly to the MMRRC Distribution Center assigned to the management, archiving, and distribution of the strain. A full listing of available testing and analytical services is available at https://www.mmrrc.org/about/services.php.

3 This information may or may not apply to each individual engineered allele (e.g., Cre, FlpO) present in the strain.

4 Recovery refers to thawing, in vitro fertilization (IVF), and/or embryo culture leading to live offspring.

Gene Details

Runx2em1Shpl
Name: runt related transcription factor 2; endonuclease-mediated mutation 1, Karl B Shpargel
Type: Allele
Species: Multi-species
Chromosome: 17
Alteration at locus: CRISPR
GFP
Name: green fluorescent protein
Type: Gene
Species: Aequorea victoria (jellyfish)
Chromosome:
Runx2
Name: runt related transcription factor 2
Synonyms: AML3, polyomavirus enhancer binding factor 2 (PEBP2), SL3-3 enhancer factor 1, PEBP2 alpha A, PEBP2aA, Osf2, Cbfa1, Pebpa2a
Type: Gene
Species: Mouse
Chromosome: 17
NCBI: 12393
Homologene: 68389

Additional Resources
IMPC
Google
Entrez
PubMed
IMSR
Gene Ontology
BioGPS
Gene Cloud
IGTC
Mouse Phenome DB
Mouse Mine
KOMP Phenotyping
Monarch
GeneCards
ClinGen
Genetic Alterations
CRISPR/Cas9 mediated targeted insertion of a trono spacer, internal ribosome entry site (IRES), Emerald GFP (EmGFP), and an FRT site immediately downstream of the translation stop codon in exon 9 of the Runx2 gene. The endogenous Runx2 3′UTR downstream of the inserted cassette remains intact.
Genotype Determination
  • Genotyping Protocol(s)
  • Center protocol and contact for technical support will be shipped with mice.
    • ES Cell Line
    Not applicable

    Strain Description

    Phenotype
    Homozygous Runx2GFP/GFP pups develop postnatal deficiencies in intramembranous and endochondral ossification that correlate with enhanced expression of RUNX2 protein in osteoblasts and hypertrophic chondrocytes. Runx2GFP/GFP phenotypes model the human disorder, Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly (MDMHB), resulting from RUNX2 enhanced activity due to intragenic duplications.

    At postnatal day 10, homozygous mice exhibit shortened frontonasal structures and mandibles, as well as reduced basisphenoid and tibial lengths. Partial closure of the intersphenoidal synchondrosis is also observed. These findings are associated with deficiencies in both intramembranous and endochondral bone growth. Histological analysis of homozygous mice at postnatal day 10 shows reduced thickness of tibial columnar and hypertrophic chondrocyte zones, with a more pronounced reduction of the hypertrophic zone. Hypertrophic chondrocytes are smaller and more densely packed than in wild-type mice. The intersphenoidal synchondrosis undergoes premature closure with fusion of the presphenoid and basisphenoid bones, while the spheno-occipital synchondrosis is condensed and contains smaller hypertrophic chondrocytes.

    RUNX2 protein is increased in homozygous mutant chondrocytes and osteoblasts in the tibia, cranial base, and mandible. Across the analyzed skeletal regions, RUNX2 protein levels are increased approximately 1.51-fold relative to wild-type mice.

    The Runx2GFP reporter is detectable beginning at E11.5 in the maxillary and forelimb bud regions and expands to broader facial regions by E12.5–E13.5. GFP expression overlaps with endogenous RUNX2 expression and is detected in both Osterix-negative pre-osteoblasts and Osterix-positive committed osteoblasts.

    Heterozygous insertion of an IRES-GFP into the Runx2 3'UTR leads to partially penetrant malocclusion (50%) and mild bone growth deficiencies. Homozygous insertion of the IRES-GFP into the Runx2 3'UTR leads to fully penetrant malocclusion and more severe bone growth deficiencies.
    MeSH Terms
    • Animals
    • Core Binding Factor Alpha 1 Subunit/metabolism
    • Core Binding Factor Alpha 1 Subunit/genetics
    • Core Binding Factor Alpha 1 Subunit/biosynthesis
    • Cell Differentiation
    • SOX9 Transcription Factor/metabolism
    • SOX9 Transcription Factor/genetics
    • Brachydactyly/pathology
    • Brachydactyly/metabolism
    • Brachydactyly/genetics
    • Mice
    • Genes, Reporter
    • Chondrocytes/metabolism
    • Chondrocytes/pathology
    • Maxilla/abnormalities
    • Maxilla/pathology
    • Maxilla/metabolism
    • Disease Models, Animal
    • Neural Crest/metabolism
    • Neural Crest/pathology
    • Chondrogenesis
    • Gene Expression Regulation, Developmental
    • Osteogenesis
    • Osteoblasts/metabolism
    • Osteoblasts/pathology
    Strain GQC Summary
    Gene Specific Genotyping:

    To request gene-specific and other genotyping services for a strain, please contact the distribution MMRRC Center for more information.

    Background Genetic Quality:

    The MMRRC has developed a Genetic Quality Control pipeline using the MiniMUGA array to provide additional information to identify and validate genetic backgrounds of MMRRC strains. For more information on whether genetic background data is available, please contact MMRRC_GeneticQC@med.unc.edu. Note: that MiniMUGA genetic background data is not available on all strains, but can be ordered if desired.

    Suggested Control Mice
    Littermates of all relevant genotypes.

    Research Applications

    • Cell Biology
    • Developmental Biology
    • Immunology and Inflammation
    • Cell Differentiation
    • Brachycephaly
    • Chondrogenesis
    • Core Binding Factor Alpha 1 Subunit
    • Gene Expression Regulation
    • Reporter Genes
    • Maxilla
    • Neural Crest
    • Osteoblasts
    • Osteogenesis
    • SOX9 Transcription Factor
    • Analysis of endogenous RUNX2 expression and RUNX2-expressing cell populations
    • Cranial neural crest cell development and lineage specification
    • Pre-osteoblast and osteoblast differentiation
    • Chondrocyte differentiation and hypertrophy
    • Intramembranous and endochondral ossification
    • Postnatal skeletal and craniofacial development
    • RUNX2 dosage and gain-of-function studies
    • Modeling Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly (MDMHB)

    Strain Origin

    Submitter
    Karl Shpargel, Ph.D., The University of North Carolina- Chapel Hill.
    Primary Reference

    Bikas DV, Vardabasso S, Quickstad G, Wyper AN, Shpargel KB. A RUNX2 reporter is expressed prior to osteochondral differentiation and models metaphyseal dysplasia with maxillary hypoplasia and brachydactyly. J Bone Miner Res. 2026 May 29;41(6):666-682. doi: 10.1093/jbmr/zjaf199. (Medline PMID: 41427853)

    Strain Development
    An expression cassette containing a trono spacer, internal ribosome entry site (IRES), Emerald GFP (EmGFP), and an FRT site were inserted immediately downstream of the Runx2 translation stop codon in exon 9 of the Runx2 gene. The entire 3’ untranslated region (3’UTR) remained intact downstream of the cassette. The repair construct, enhanced specificity CAS9 protein, and gRNA were microinjected into C57BL/6J embryos. Two independent founders were backcrossed to C57BL/6J to generate two independent lines of Runx2GFP that produce identical reporter properties and phenotypes. Runx2GFP lines were genotyped with long range and vector backbone primers to ensure they have the correct insertion at the correct location. The reporter enables GFP-based detection of cells expressing endogenous Runx2.

    Disclaimer: If MMRRC Strain Genetic Quality Control (GQC; based on MiniMUGA genotyping and analysis) has been completed for this strain, the information might differ from the genetic background information provided by the submitter. MiniMUGA genetic analysis is done on a strain's tissue samples taken when archived by or ordered from the assigned MMRRC Center.

    Colony and Husbandry Information

    Health Status Report

    Colony Surveillance Program and Current Health Reports

    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_health@med.unc.edu.

    Appearance

    Coat Color
    Black
    Eye
    Black

    Breeding

    MMRRC Breeding System
    Sib-mating
    Generation
    N/A
    Overall Breeding Performance
    Good

    Reproductive Statistics

    Viability and Fertility: Female Male Comments
    Homozygotes are viable: Reduced Reduced
    Homozygotes are fertile: Undetermined Undetermined
    Heterozygotes are fertile: Yes Yes
    Age Reproductive Decline: Undetermined Undetermined
    Average litter size
    7 to 9
    Recommended wean age
    3 Weeks
    Average Pups Weaned
    Variable

    Order 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.

    Cryopreserved material may be available upon request, please inquire to mmrrc@med.unc.edu for more information.

    A Commercial License Agreement from the Submitter is required for for-profit entities to use this strain. For more information, please contact Carmen Melvin.

    Conditions of Distribution

    A Commercial License Agreement from the Submitter is required for for-profit entities to use this strain. For more information, please contact Carmen Melvin

    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.

    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 $)
    *Shipping & Handling not included*    		 Units Notes
    076161-UNC-RESUS Litter recovered from cryo-archive $3,566.00 / $5,920.00
    Non-Profit / For-Profit     		Litter Recovered litter4; additional fees for any special requests.
    Cryopreserved material may be available upon request, please inquire to mmrrc@med.unc.edu for more information.

    1 The distribution fee covers the expense of rederiving mice from a live mouse; 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 contains a sufficient number of embryos (in one or more vials or straws and based on the transfer success rate of the MMRRC facility) to transfer into one to three recipients. The MMRRC makes no guarantee concerning embryo transfer success experienced in the recipient investigator's laboratory. Neither gender nor genotype ratios are guaranteed.

    3 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.

    4 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.

    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.