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Strain Name:
C57BL/6N-Cybbem1Tcf/Mmjax
Stock Number:
071707-JAX
Citation ID:
RRID:MMRRC_071707-JAX
Other Names:
Cybb-C517 del

Strain Information

Cybbem1Tcf
Name: cytochrome b-245, beta polypeptide; endonuclease-mediated mutation 1, Ralf Kuehn
Synonyms: CybbC517del
Type: Allele
Species: Mus musculus (mouse)
Chromosome: X
Alteration at locus: CRISPR
Cybb
Name: cytochrome b-245, beta polypeptide
Synonyms: gp91phox, gp91phox, Nox2, Cgd
Type: Gene
Species: Mouse
Chromosome: X
Alteration at locus: CRISPR
NCBI: 13058
HGNC: HGNC:2578
Homologene: 68054
Genetic Alterations
Cybb-C517del mice harbor a single nucleotide deletion in exon 6 of the Cybb gene, resulting in a frameshift and loss of function. These mice may be useful when studying X-linked chronic granulomatous disease.
ES Cell Line
Not applicable
Phenotype

Cybb codes for cytochrome b-245, beta chain which is a subunit of NADPH oxidase (NOX1). NOX1 is a membrane-bound enzyme complex in phagocytic leukocytes and is responsible for producing anti-microbial oxygen species in response to certain bacterial and fungal infections. Cybb mutations have been associated with chronic granulomatous disease (CGD), an inherited primary immunodeficiency disease that results in increased susceptibility to infections. These Cybb-C517del mice harbor a single nucleotide deletion in exon 6 of the Cybb gene, resulting in a frameshift and loss of function.

Homozygous Cybb-C517del females and hemizygous Cybb-C517del males are viable and fertile with no overt phenotype when maintained in specific pathogen-free (SPF) conditions. These mice may be useful when studying X-linked CGD.

MeSH Terms
  • Granulomatous Disease, Chronic/therapy
  • Granulomatous Disease, Chronic/genetics
  • Animals
  • Genetic Therapy/methods
  • Mice
  • CRISPR-Cas Systems
  • Disease Models, Animal
  • NADPH Oxidase 2/genetics
  • Reactive Oxygen Species/metabolism
  • Hematopoietic Stem Cells/metabolism
  • Humans
  • Macrophages/metabolism
  • Mutation
Strain Development
The Cybb-C517del allele was generated using CRISPR/Cas9 endonuclease-genome editing. A single guide RNA was selected to introduce a single nucleotide deletion (C517) in exon 6 of the cytochrome b-245, beta polypeptide (Cybb) locus on chromosome X. Cybb transcript Cybb-201 (ENSMUST00000015484.10) was used as reference for the exon number and the guide sequences. Cas9 nuclease mRNA, sgRNAs and a DNA donor template sequence were introduced into the cytoplasm of zygotes derived from C57BL/6N mice (Charles River, Sulzbach, Germany) with well recognized pronuclei. Correctly targeted pups were identified by PCR and Sanger sequencing. The resulting founder mice were crossed to C57BL/6N mice for 3 generations to reduce off-target CRISPR changes. Upon arrival at The Jackson Laboratory, sperm was cryopreserved. To establish our live colony, an aliquot of frozen sperm was used to fertilize C57BL/6NJ oocytes.
Suggested Control Mice
C57BL/6N
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 csmmrrc@jax.org. Older strains may not have this information.
  • Immunology and Inflammation
Donor
Ralf Kuehn, Ph.D., Max-Delbrück-Centrum for Molecular Medicine.
Primary Reference

Sevim-Wunderlich S, Dang T, Rossius J, Schnütgen F, Kühn R. A Mouse Model of X-Linked Chronic Granulomatous Disease for the Development of CRISPR/Cas9 Gene Therapy. Genes (Basel). 2024 May 28;15(6):706. doi: 10.3390/genes15060706. (Medline PMID: 38927642)

Colony and Husbandry Information

For more information about this colony's health status contact csmmrrc@jax.org
Coat Color
Black
Eye
Black
MMRRC Breeding System
Sib-mating
Generation
N/A
Overall Breeding Performance
Good
NOTE: "Hemizygote" as used here refers to males carrying a mutation on the X Chromosome or mice of either sex carrying an inserted transgene with no homologous allele on the other chromosome.
Viability and Fertility: Female Male Comments
Homozygotes are viable: Yes Yes
Homozygotes are fertile: Yes Yes
Hetero/Hemizygotes are fertile: Yes Yes
Age Reproductive Decline: Undetermined Undetermined
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 (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 csmmrrc@jax.org for more details.

Cryopreserved material may be available upon request, please inquire to csmmrrc@jax.org 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 Gerd Müller.

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

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
071707-JAX-HOM-F
071707-JAX-HOM-M
071707-JAX-HET-F
071707-JAX-HET-M
071707-JAX-WT-F
071707-JAX-WT-M
Homozygous Female
Homozygous Male
Heterozygous / Hemizygous Female
Heterozygous / Hemizygous Male
Wild Type Female
Wild Type Male
$229.00 / $229.00
Non-Profit / For-Profit
Per Mouse The csmmrrc@jax.org 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 csmmrrc@jax.org 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.