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Strain Name:
B6J;B6N-Tgfbr2em1Rstot/Mmmh
Stock Number:
076267-MU
Citation ID:
RRID:MMRRC_076267-MU
Other Names:
Tgfbr2-em2Rstot, Tgfbr2-V387M

Strain Information

QUALITY CONTROL OF B6J;B6N-Tgfbr2em1Rstot/Mmmh  |  University of Missouri
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 YES
Recoverability of cryopreserved sperm/embryos4 n.d.
Gene or allele sequence3n.d.
Gene or allele expression3n.d.
Gene or allele function3n.d.
Observable and/or measurable phenotypesn.d.
Fertility of genotypes available for distributionn.d.
Fecundity/breeding performancen.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.

Tgfbr2em1Rstot
Name: transforming growth factor, beta receptor II; endonuclease-mediated mutation 1, Rolf Stottmann
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 9
Alteration at locus: Knock-In
Tgfbr2
Name: transforming growth factor, beta receptor II
Synonyms: TbetaR-II, TbetaRII, 1110020H15Rik, TBR-II
Type: Gene
Species: Mouse
Chromosome: 9
NCBI: 21813
VEGA: 9
Homologene: 2435
Genetic Alterations
CRISPR/Cas9-generated missense mutation in Tgfbr2 resulting in a valine-to-methionine substitution at amino acid position 387 (V387M).
ES Cell Line
Not applicable
Phenotype
Mice homozygous for the V387M substitution in the Tgfbr2 gene are recovered at expected Mendelian ratios at weaning, with no reduction in survival compared to wild-type or heterozygous animals. Homozygous mice do not exhibit cleft palate or micrognathia and show no differences in mandible length, skull length, skull width, or snout length compared to wild-type controls. Histological analysis at embryonic and perinatal stages (E18.5 and P0) does not reveal craniofacial abnormalities. Biochemical analysis shows no difference in phosphorylated SMAD2 (p-SMAD2) levels relative to total SMAD2 in mutant mandibles, indicating no detectable alteration in canonical TGFβ signaling activity.
MeSH Terms
  • Cleft Palate/genetics
  • Animals
  • Receptor, Transforming Growth Factor-beta Type II/genetics
  • Mice
  • Humans
  • Micrognathism/genetics
  • Disease Models, Animal
  • Receptors, Transforming Growth Factor beta/genetics
  • Female
  • Male
  • Phenotype
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.
  • Cell Biology
  • Developmental Biology
  • Functional assessment of human TGFBR2 variants
  • Craniofacial development and palate formation
  • TGFβ signaling pathway analysis
  • Variant pathogenicity testing in vivo
  • Models of cleft palate and micrognathia genetics
Submitter
Rolf Stottmann, Ph.D., Nationwide Children's Hospital.
Primary Reference

Michaels JR, Iyyanar PPR, Husami A, Vontell AM, Brugmann SA, Stottmann RW. Genetic analysis and functional assessment of a TGFBR2 variant in micrognathia and cleft palate. PLoS One. 2025 Jun 9;20(6):e0324803. doi: 10.1371/journal.pone.0324803. (Medline PMID: 40489498)

Strain Development
The Tgfbr2V387M allele was generated using CRISPR/Cas9-mediated genome editing in C57BL/6N zygotes. A Tgfbr2-specific sgRNA (AGGTCAAGTCGTTCTTCACT) and donor oligonucleotides containing the desired missense mutation were co-injected with Cas9 protein into C57BL/6N zygotes followed by embryo implantation into pseudopregnant females. Founder animals were identified by PCR genotyping, restriction enzyme digestion, and Sanger sequencing, and were subsequently bred to C57BL/6J mice to establish germline transmission. Propagation of the Tgfbr2 allele was done by crossing to wild-type C57BL/6J mice and/or intercross.

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

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@missouri.edu.
Coat Color
Black
Eye
Black
MMRRC Breeding System
Sib-mating
Generation
1
Overall Breeding Performance
Good
Viability and Fertility: Female Male Comments
Homozygotes are viable: Yes Yes
Homozygotes are fertile: Yes Yes
Heterozygotes are fertile: Yes Yes
Age Reproductive Decline: Undetermined Undetermined
Average litter size
7 to 9
Recommended wean age
3 Weeks
Average Pups Weaned
7 to 9

Order Information

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@missouri.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 Andrew Corris.

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

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.

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
076267-MU-SPERM Cryo-preserved spermatozoa $546.25 / $1,021.25
Non-Profit / For-Profit
Aliquot Approximate quantity3
076267-MU-RESUS Litter recovered from cryo-archive $2,624.00 / $5,340.00
Non-Profit / For-Profit
Litter Recovered litter4; additional fees for any special requests.
Cryopreserved material may be available upon request, please inquire to mmrrc@missouri.edu for more information.

Some MMRRC strains were submitted by the submitter as cryopreserved germplasm, and because these strains were not cryopreserved by the MMRRC, we have not assessed the quality, nor genotype, of this material. Our expertise in reviving mice from various qualities of frozen sperm and embryos, using methods like IVF and ICSI, gives us confidence in successful recoveries in most cases. However, due to the uncertain quality of these samples, we'll limit revival attempts to two per order. Additional attempts are available for a fee, on top of standard charges, if requested. It's important to note that some strains may lack the expected mutation, so we can't assure successful order fulfillment until we attempt to revive the strain.

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.