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Strain Name:
C57BL/6J-Rr169617em1Tnt/Mmmh
Stock Number:
075665-MU
Citation ID:
RRID:MMRRC_075665-MU
Other Names:
C57BL/6J-Rr169617/TntJ

Strain Information

Rr169617
Name: regulatory region 169617
Type: Regulatory Region
Species: Mus musculus (mouse)
Chromosome: 7
Alteration at locus: CRISPR
Genetic Alterations
This allele harbors a 1,160 bp deletion in the Rr169617 enhancer sequence.
ES Cell Line
Not applicable
Phenotype

The deletion within Rr169617 reduces the expression of Ebf3 and results in sex specific behavioral differences.

  • Homozygous mice: exhibits ~20% reduction in Ebf3 expression compared to wild type
    • time mobile showed sexual dimorphism: males less active than females
    • speed of travel showed sexual dimorphism: males less active than females
    • bone parameters showed sexual dimorphism: males have larger, denser bones than females
    • body composition: lower proportion of fat, and conversely increased lean proportion and lean mass
  • Heterozygous mice: exhibits ~10% reduction in Ebf3 expression compared to wild type
MeSH Terms
  • Autistic Disorder/epidemiology
  • Autistic Disorder/genetics
  • Autistic Disorder/pathology
  • Enhancer Elements, Genetic/genetics
  • Exome/genetics
  • Female
  • Gene Regulatory Networks/genetics
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Muscle Hypotonia/epidemiology
  • Muscle Hypotonia/genetics
  • Muscle Hypotonia/pathology
  • Mutation/genetics
  • Neurodevelopmental Disorders/epidemiology
  • Neurodevelopmental Disorders/genetics
  • Neurodevelopmental Disorders/pathology
  • Neurons/metabolism
  • Neurons/pathology
  • Transcription Factors/genetics
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.
  • Models for Human Disease
Donor
Tychele Turner, Ph.D., Washington University in St. Louis.
Primary Reference

Generation and Characterization of a Knockout Mouse of an Enhancer of EBF3 Emily Cordova Hurtado, Janine M. Wotton, Alexander Gulka, Crystal Burke, Jeffrey K. Ng, Ibrahim Bah, Juana Manuel, Hillary Heins, Stephen A. Murray, David U. Gorkin, Jacqueline K. White, Kevin A. Peterson, Tychele N. Turner bioRxiv 2025.01.09.631762; doi: https://doi.org/10.1101/2025.01.09.631762

Padhi EM, Hayeck TJ, Cheng Z, Chatterjee S, Mannion BJ, Byrska-Bishop M, Willems M, Pinson L, Redon S, Benech C, Uguen K, Audebert-Bellanger S, Le Marechal C, Férec C, Efthymiou S, Rahman F, Maqbool S, Maroofian R, Houlden H, Musunuri R, Narzisi G, Abhyankar A, Hunter RD, Akiyama J, Fries LE, Ng JK, Mehinovic E, Stong N, Allen AS, Dickel DE, Bernier RA, Gorkin DU, Pennacchio LA, Zody MC, Turner TN. Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism. Hum Genomics. 2021 Jul 13;15(1):44. doi: 10.1186/s40246-021-00342-3. (Medline PMID: 34256850)

Strain Development
To delete the relevant sequence in Rr169617, paired upstream and downstream guides were identified to flank the genomic region of interest on mouse chr7:136083335-136084349 (GRCm38/mm10). Guide RNAs were incubated with Cas9 protein to generate ribonucleoprotein complexes (RNPs) followed by electroporation into C57BL/6J zygotes (JAX strain #:000664). Following PCR genotyping for the deletion allele, three independent founder lines (lines 299, 300 and 304) were recovered and backcrossed to C57BL/6J to generate N1 progeny; however, only two lines (299 and 304) showed successful germline transmission. A molecular description of the genomic lesion present in each of these independent lines was defined by Sanger Sequencing of PCR amplicons.Note, MMRRC:75665 is line 299.


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
Other or uncertain
Generation
N/A
Overall Breeding Performance
Good
Viability and Fertility: Female Male Comments
Homozygotes are viable: Yes Yes
Homozygotes are fertile: Undetermined Undetermined
Heterozygotes are fertile: Yes Yes
Age Reproductive Decline: Undetermined Undetermined
Average litter size
Undetermined
Recommended wean age
4 Weeks
Average Pups Weaned
Undetermined

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 Donor is required for for-profit entities to use this strain. For more information, please contact Frank Hardin.

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.

A Commercial License Agreement from the Donor is required for for-profit entities to use this strain. For more information, please contact Frank Hardin

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
075665-MU-SPERM Cryo-preserved spermatozoa $437.00 / $817.00
Non-Profit / For-Profit
Aliquot Approximate quantity3
075665-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.

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.