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Strain Name:
C57BL/6J-Rtel1em2Khk/Mmnc
Stock Number:
071762-UNC
Citation ID:
RRID:MMRRC_071762-UNC
Other Names:
Rtel1tm2.khk, Rtel1M492I

Strain Information

Rtel1em2Khk
Name: regulator of telomere elongation helicase 1; endonuclease-mediated mutation 2, Klaus H Kaestner
Synonyms: Rtel1M492I
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 2
Alteration at locus: CRISPR
Rtel1
Name: regulator of telomere elongation helicase 1
Type: Gene
Species: Mouse
Chromosome: 2
Alteration at locus: CRISPR
NCBI: 269400
Homologene: 13168
Genetic Alterations
This allele harbors a point mutation in Rtel1 that changes codon 492 from methionine to isoleucine. This mutation corresponds to a mutation in RTEL1 in the human disease Hoyeraal-Hreidarsson syndrome (HHS).
Genotype Determination
  • Genotyping Protocol(s)
  • Center protocol and contact for technical support will be shipped with mice.
  • ES Cell Line
    Not applicable
    Phenotype
    The HHS mouse, a model of human Hoyeraal-Hreidarsson syndrome, displays shortened telomere repeats and elevated levels of telomeric DNA damage, telomere fragility, telomeric recombination, anaphase bridges, and micronuclei.

    Conditional phenotype: No

    Strain Development
    The Rtel1M492I mouse was generated using CRISPR-Cas9 assisted genome editing in C57BL/6 zygotes. Successful gene targeting in the resulting offspring was confirmed by DNA sequencing. The founder mouse was backcrossed to the isogenic parental wild-type (WT) C57BL/6 mice to generate F0 mice heterozygous for the Rtel1M492I allele, termed Rtel1M/I. F0 Rtel1M/I mice were crossed to C57BL/6 mice two additional times to generate F1 and F2 Rtel1M/I mice. Homozygosity for the Rtel1 mutation (Rtel1I/I) was established in the third generation (F3). The homozygous Rtel1I/I mice were then bred inter se for eleven additional generations up to F14 to date, and were analyzed for telomere length and function. We termed the Rtel1I/I mouse model ‘HHS mouse’.
    Suggested Control Mice
    C57BL/6 mice
    MMRRC Genetic QC Summary
    The MMRRC Centers have developed a genetic QC pipeline using MiniMUGA array genotyping to provide additional information on strain backgrounds for MMRRC congenic and inbred strains. For more information on when data may be available, or to request genotyping for a strain of interest, please contact mmrrc@med.unc.edu. Older strains may not have this information.
    • Cancer
    • Models for Human Disease
    Donor
    Klaus Kaestner, Ph.D., University of Pennsylvania.
    Primary Reference

    Smoom R, May CL, Lichtental D, Skordalakes E, Kaestner KH, Tzfati Y. Separation of telomere protection from length regulation by two different point mutations at amino acid 492 of RTEL1. bioRxiv [Preprint]. 2024 Aug 25:2024.02.26.582005. doi: 10.1101/2024.02.26.582005. (Medline PMID: 38464183)

    Colony and Husbandry Information

    Coat Color
    Black
    Eye
    Black
    MMRRC Breeding System
    Sib-mating
    Generation
    N/A
    Overall Breeding Performance
    Poor
    Viability and Fertility: Female Male Comments
    Homozygotes are viable: Yes Yes
    Homozygotes are fertile: Yes Yes
    Heterozygotes are fertile: N/A N/A
    Age Reproductive Decline: 10 to 12 months 10 to 12 months
    Average litter size
    7 to 9
    Recommended wean age
    3 Weeks
    Average Pups Weaned
    7 to 9

    Order Request Information

    Limited quantities of breeder mice (up to 2 males and 2 females or 4 mice) per investigator per month are available from a live colony, usually available to ship in under 12 weeks. Larger quantities may be available, please contact the distributing center directly at mmrrc@med.unc.edu for more details.

    Cryopreserved material may be available upon request, please inquire to mmrrc@med.unc.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 Technology Transfer Office.

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

    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
    071762-UNC-HOM-F
    071762-UNC-HOM-M
    Homozygous Female
    Homozygous Male
    $326.00 / $541.00
    Non-Profit / For-Profit
    Per Mouse The mmrrc@med.unc.edu may assess additional fees for any special requests (e.g., specific age or weight of mice, etc.).
    Cryopreserved material may be available upon request, please inquire to mmrrc@med.unc.edu for more information.

    Some MMRRC strains were submitted by the donor 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.