Loading...

Strain Detail Sheet

Strain Name:
C57BL/6J-Rtel1em1Khk/Mmnc
Stock Number:
071750-UNC
Citation ID:
RRID:MMRRC_071750-UNC
Other Names:
Rtel1 M492K (RTEL-K / TELOMOUSE)

Strain Information

Gene Details

Rtel1em1Khk
Name: regulator of telomere elongation helicase 1; endonuclease-mediated mutation 1, Klaus H Kaestner
Synonyms: Rtel1M492Kkhk, Rtel1M492K
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

Additional Resources
IMPC
Google
Entrez
PubMed
IMSR
Gene Ontology
BioGPS
Gene Cloud
IGTC
Mouse Phenome DB
Mouse Mine
KOMP Phenotyping
Monarch
GeneCards
ClinGen
Genetic Alterations
CRISPR-targeting generated a point mutation in codon 492 of Rtel1, changing methionine to lysine (M492K).
Genotype Determination
  • Genotyping Protocol(s)
  • Center protocol and contact for technical support will be shipped with mice.
    • ES Cell Line
    Not applicable

    Strain Description

    Phenotype
    The M492K mutation altered the function of Rtel1 in regulating telomere length, resulting in a reduction of telomere length compared to WT M. musculus mice. Furthermore, an increase in Robertsonian fusions from PD 100 to 250 in association of telomere shortening, was observed. Despite displaying shorter telomeres, Rtel1 M492K mice have no apparent increase in pathologies under normal physiological conditions, with the exception of a small decrease in the replication rate of the fastest proliferating cells of the colonic epithelium. The Retl1 M492K mice provide a unique model for studying the effects of short telomeres on organ function during aging.
    MeSH Terms
    • Humans
    • Mice
    • Animals
    • Disease Models, Animal
    • Genome
    • Telomere/genetics
    • Cell Proliferation
    • Neoplasms/genetics
    • DNA Helicases/genetics
    Strain Development
    Rtel1 M492K mice were modified via CRISPR/Cas-mediated genome engineering. CRISPR guide RNAs were designed and diluted in injection buffer. Cytoplasmic injection was done using C57BL/6J zygotes. After injection, SCR7 (Xcessbio) was added to the overnight egg culture at the concentration of 50 µM. Successful gene targeting in the resulting offspring was confirmed via DNA sequencing and PCR. The founder mouse was backcrossed to wild-type C57BL/6 mice to generate F0 mice heterozygous for the Rtel1 M492K allele. F0 mice were intercrossed to generate F1 and F2 mice. Homozygosity for the Rtel1 mutation was established in the F3 generation. Homozygous mice were then interbred for 13 additional generations up to F16 to date.
    Suggested Control Mice
    C57BL/6J

    MMRRC Genetic QC

    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.

    Research Applications

    • Cancer
    • Models for Human Disease

    Strain Origin

    Donor
    Klaus Kaestner, Ph.D., University of Pennsylvania.
    Primary Reference

    Smoom R, May CL, Ortiz V, Tigue M, Kolev HM, Rowe M, Reizel Y, Morgan A, Egyes N, Lichtental D, Skordalakes E, Kaestner KH, Tzfati Y. Telomouse-a mouse model with human-length telomeres generated by a single amino acid change in RTEL1. Nat Commun. 2023 Oct 23;14(1):6708. doi: 10.1038/s41467-023-42534-6. (Medline PMID: 37872177)

    Colony and Husbandry Information

    Special Considerations

    N/A

    Health Status Report

    Colony Surveillance Program and Current Health Reports

    For more information about this colony's health status contact mmrrc_health@med.unc.edu

    Appearance

    Coat Color
    Black
    Eye
    Black

    Breeding

    MMRRC Breeding System
    Sib-mating
    Generation
    N/A
    Overall Breeding Performance
    Good

    Reproductive Statistics

    Viability and Fertility: Female Male Comments
    Homozygotes are viable: Yes Yes
    Homozygotes are fertile: Yes Yes
    Heterozygotes are fertile: Yes Yes
    Age Reproductive Decline: 10 to 12 months 10 to 12 months
    Average litter size
    7 to 9
    Recommended wean age
    4 Weeks
    Average Pups Weaned
    7 to 9

    Order Request Information

    Availability Level

    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.

    Conditions of Distribution

    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 Technology Transfer Office

    Fees

    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
    071750-UNC-HET-F
    071750-UNC-HET-M
    		Heterozygous / Hemizygous Female
    Heterozygous / Hemizygous Male
    		 $311.00 / $516.00
    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.

    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.