Strain Name:
C57BL/6J-Reltem1Jpsi/Mmnc
Stock Number:
067182-UNC
Citation ID:
RRID:MMRRC_067182-UNC
Other Names:
B6-ReltC396X

Strain Information

Reltem1Jpsi
Name: RELT tumor necrosis factor receptor; endonuclease-mediated mutation 1, James P Simmer
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 7
Alteration at locus: CRISPR
Relt
Name: RELT tumor necrosis factor receptor
Synonyms: E430021K24Rik, Tnfrsf19l
Type: Gene
Species: Mouse
Chromosome: 7
Alteration at locus: CRISPR
NCBI: 320100
Homologene: 13151
Genetic Alterations
Mouse tumor necrosis factor receptor (Relt) coding sequence (Chromosome 7: 100,845,847-100,863,446 reverse strand) was targeted. A C-to-T nucleotide exchange followed by a 2-bp deletion in codon 436 predicts a premature termination codon.

HGVS nomenclature:
Note: HGVS nomenclature rules stipulate positional references based on the longest/major RefSeq. This variant would be in position 396 if the shorter splice variant #1 reference frame was used (NM_177073.6).
Genotype Determination
  • Genotyping Protocol(s)
  • Center protocol and contact for technical support will be shipped with mice.
  • ES Cell Line
    Not specified
    Phenotype
    No apparent deviations from the wild-type mice in terms of growth, development, physical activities, reproduction, and life span. Tooth enamel is affected.
    Strain Development
    CRISPR manipulations used C57BL/6J zygotes. The founders were backcrossed twice to C57BL/6J prior to sib-mating.
    Suggested Control Mice
    Wild-type littermates
    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 one XY sample YA4452 at the time of importation. The results of the analysis are inconsistent with the SDS, see special considerations section. There is positive evidence of C57BL/6J and C57BL/6NCrl substrains. There is no evidence of additional backgrounds. The mitochondrial genome is consistent with both substrains (identical by descent). However, the Y chromosome is C57BL6/NCrl and has not been backcrossed to a male from C57BL6/J. The region containing the allele of interest has the expected C57BL6/J background and the sample is homozygous at the locus. None of the constructs detectable by MiniMUGA are present.

    The genome of the MMRRC:67182 strain is 100 % inbred at the strain level. 29.5% of the genome is segregating for the two substrains (C57BL/6J and C57BL/6NCrl) that contribute to the strain background. The contribution of C57BL6/J is 85.2%. The contribution of C57BL/6NCrl is 14.8%.

    The estimated inbreeding, congenicity, and the relative strain/substrain contribution depend on the number of samples genotyped. The genomes of strains that are not fully inbred are not completely reproducible.
    MiniMUGA Sample Report
    • Developmental Biology
    Donor
    James Simmer, Ph.D., University of Michigan.
    Jan Ching Chun Hu, Ph.D., University of Michigan.
    Primary Reference

    Kim JW, Zhang H, Seymen F, Koruyucu M, Hu Y, Kang J, Kim YJ, Ikeda A, Kasimoglu Y, Bayram M, Zhang C, Kawasaki K, Bartlett JD, Saunders TL, Simmer JP, Hu JC. Mutations in RELT cause autosomal recessive amelogenesis imperfecta. Clin Genet. 2019 Mar;95(3):375-383. doi: 10.1111/cge.13487. Epub 2018 Dec 21. (Medline PMCID: 6392136)

    Colony and Husbandry Information

    Null mice are maintained on hard chow and supplemented with diet gel.

    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
    Backcross and sib-mating
    Generation
    N3 (C57BL/6J)
    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: 4 to 6 months 4 to 6 months
    Bred to Homozygosity
    Yes
    Average litter size
    4 to 6
    Recommended wean age
    3 Weeks
    Average Pups Weaned
    4 to 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.

    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
    067182-UNC-EMBRYO Cryo-preserved embryos $1,404.00 / $2,331.00
    Non-Profit / For-Profit
    Aliquot Approximate quantity2 : 20-40 embryos / aliquot
    067182-UNC-SPERM Cryo-preserved spermatozoa $564.00 / $937.00
    Non-Profit / For-Profit
    Aliquot Approximate quantity3
    067182-UNC-RESUS Litter recovered from cryo-archive $2,914.00 / $4,837.00
    Non-Profit / For-Profit
    Litter Recovered litter4; additional fees for any special requests.

    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.