Strain Name:
C57BL/6J-Tcf4em1Bdph/Mmnc
Stock Number:
046260-UNC
Citation ID:
RRID:MMRRC_046260-UNC
Other Names:
Tcf4 R579W/+

Strain Information

Tcf4em1Bdph
Name: transcription factor 4; endonuclease-mediated mutation 1, Benjamin D Philpot
Synonyms: Tcf4R579W
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 18
Alteration at locus: CRISPR
Tcf4
Name: transcription factor 4
Synonyms: ME2, MITF-2B, E2-2, ASP-I2, SEF-2, E2.2, 5730422P05Rik, ITF-2, ITF-2b, MITF-2A, SEF2-1, bHLHb19, TFE
Type: Gene
Species: Mouse
Chromosome: 18
Alteration at locus: CRISPR
NCBI: 21413
Homologene: 2407
Genetic Alterations

Point mutation in Tcf4:

  • mRNA RefSeq: NM_013685.2 (using the longest isoform known)
  • protein RefSeq: NP_038713.1
  • nucleic acid change: c.1735A>T
  • predicted amino acid level change: p.Arg579Trp
    Check this variant: LUMC Mutalyzer
Genotype Determination
  • Genotyping Protocol(s)
  • Center protocol and contact for technical support will be shipped with mice.
  • Phenotype
    Weight loss, microcephaly, hyperactivity, reduced anxiety, and deficient spatial learning
    Strain Development
    Cas9 mRNA + gRNA + donor oligonucleotide microinjection directly into C57BL/6J embryos, followed by implantation into pseudopregnant recipients. Resulting pups were screened to identify those carrying the desired mutation. Founders were mated back to wild-type C57BL/6J animals for germline transmission of the desired mutation.
    Suggested Control Mice
    wild-type C57BL/6
    MMRRC Genetic QC Summary
    Genetic QC analysis (GQC) was performed on representative samples from the donor submission and provides a baseline reference. Regardless of the material ordered (live mice, sperm, embryos, resuscitated animals), the provided material is guaranteed to contain the primary genetic alteration of interest; however, the composition of the genetic background may vary (See Reproducibility sections of the report for details). The impact of genetic background on previously reported phenotypes has not been evaluated.

    GQC analysis was done on two XY samples, UA8774 and FL3123 at the time of importation and the conclusions are consistent in all samples. The results of the analysis are congruent with the SDS and FL3123 is the representative sample selected for the report. The background is C57Bl/6J and there is no evidence of a secondary background. The mitochondrial genome and Y chromosome are consistent with the C57BL/6J background and none of the constructs detectable by MiniMUGA are present.

    The genome of the MMRRC:46260 strain is 100 % inbred.
    MiniMUGA Sample Report
    Donor
    Ben Philpot, Ph.D UNC at Chapel Hill
    Primary Reference

    Thaxton C, Kloth AD, Clark EP, Moy SS, Chitwood RA, Philpot BD. CommonPathophysiology in Multiple Mouse Models of Pitt-Hopkins Syndrome. J Neurosci.2018 Jan 24;38(4):918-936. doi: 10.1523/JNEUROSCI.1305-17.2017. Epub 2017 Dec 8. (Medline PMID: 29222403)

    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_health@med.unc.edu.
    Coat Color
    Black
    Eye
    Black
    MMRRC Breeding System
    Random intra-strain mating
    Generation
    "N1" (C57BL/6J)
    Overall Breeding Performance
    Good
    Viability and Fertility: Female Male Comments
    Homozygotes are viable: No No
    Homozygotes are fertile: No No
    Heterozygotes are fertile: Yes Yes
    Age Reproductive Decline: 8 to 12 months 8 to 12 months
    Average litter size
    4-6
    Recommended wean age
    3 Weeks
    Average Pups Weaned
    4-6

    Order Request 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@med.unc.edu for more information.

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

    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
    046260-UNC-SPERM Cryo-preserved spermatozoa $564.00 / Non-Profit Aliquot Approximate quantity3
    046260-UNC-RESUS Litter recovered from cryo-archive $2,914.00 / Non-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.