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Strain Detail Sheet

Published: 10/21/2024
Revised: 04/23/2026

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

Strain Information

Strain Quality Control

QUALITY CONTROL OF C57BL/6J-Rtel1em1Khk/Mmnc  |  University of North Carolina at Chapel Hill
Last Updated:
Strain Data and Information Information by Submitter Assessed by MMRRC1,2
Published Provided
Allele-specific genotype3  YES
Genetic background  YES
Viability of genotypes available for distribution  YES
Specific Pathogen- Status  YES
Recoverability of cryopreserved sperm/embryos4  YES
Gene or allele sequence3  n.d.
Gene or allele expression3  n.d.
Gene or allele function3  n.d.
Observable and/or measurable phenotypes  n.d.
Fertility of genotypes available for distribution  YES
Fecundity/breeding performance  YES

1 When indicated as "assessed by MMRRC" ("YES"), please note that the information presented on this strain is to the best of our knowledge correct and up-to-date at the the MMRRC Distribution Center assigned to maintain and distribute this strain. This information is subject to change due to breeding, maintenance, and other actions. Please direct any questions on the information presented in this table to the MMRRC Distribution Center.

2 If an assessment has not been performed by the MMRRC (as indicated by "NO"), investigators may request specific testing for a fee. Requests should be submitted directly to the MMRRC Distribution Center assigned to the management, archiving, and distribution of the strain. A full listing of available testing and analytical services is available at https://www.mmrrc.org/about/services.php.

3 This information may or may not apply to each individual engineered allele (e.g., Cre, FlpO) present in the strain.

4 Recovery refers to thawing, in vitro fertilization (IVF), and/or embryo culture leading to live offspring.

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
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 GQC Summary
    Coisogenic strain carrying the em1Khk allele of the Rtel1 gene on C57BL/6J background. C57BL/6J was detected with diagnostic alleles. The genome of this strain is fully replicable. This GQC report is based on the MiniMUGA G3 2024 pipeline using 2 samples genotyped in 2024.
    MMRRC Strain GQC Report
    Suggested Control Mice
    Littermates of all relevant genotypes.

    Research Applications

    • Cancer
    • Models for Human Disease

    Strain Origin

    Submitter
    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)

    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.

    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

    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 Information

    Availability Level

    The availability level for this product has not been determined.

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

    Fees

    - Products for this strain are Not Yet Available for Ordering
    - If you register interest in this strain, you will be notified when it becomes available for ordering.

    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.