Strain Name:
STOCK Brca1tm2Rjbr/Mmmh
Stock Number:
069513-MU
Citation ID:
RRID:MMRRC_069513-MU
Other Names:
Brca1S1598F, Brca1SF, Brcatm2.1Thl

Strain Information

Brca1tm2Rjbr
Name: breast cancer 1, early onset; targeted mutation 2, Richard J Baer
Synonyms: Brca1S1598F, Brca1tm2.1Thl
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 11
Alteration at locus: Knock-In
Brca1
Name: breast cancer 1, early onset
Type: Gene
Species: Mouse
Chromosome: 11
Alteration at locus: Knock-In
NCBI: 12189
HGNC: HGNC:1100
Homologene: 5276
Genetic Alterations

The Brca1S1598F allele was generated to replace the natural serine codon for Brca1 amino acid residue 1598 with a phenylalanine codon. Thus, Brca1S1598A encodes a full-length Brca1 polypeptide (1812 amino acids) which is predicted to contain S1598F, a missense mutation modeled after the pathogenic BRCA1-S1655F mutation implicated in human hereditary breast and ovarian cancer. Structural and biochemical studies have established that this mutation abrogates the interaction of BRCA1 protein with its BRCT phospho-ligands, including Abraxas, BRIP1, and CtIP. Of note, the Brca1S1598F allele retains the original loxP-neomycin-loxP (LNL) gene cassette in intron 16, which does not affect the expression of the Brca1-S1598F protein.

HVGS Nomenclature
  • Genbank RefSeq - mRNA: NM_009764.3
  • Genbank RefSeq, protein: NP_033894.3
  • Variant, nucleic acid level: c.4793_4794delinsTT
  • Variant, amino acid level, predicted: p.Ser1598Phe (S1598F)
  • Check this variant: LUMC Mutalyzer
ES Cell Line
KV1
Phenotype
Heterozygous (Brca1S1598F/+) mice resemble their wild-type (Brca1+/+) littermates in that they develop normally and are fertile. In contrast, homozygous (Brca1S1598F/S1598F) pups are born at sub-Mendelian ratios that vary depending on the mouse strain background. The surviving Brca1S1598F/S1598F pups can reach adulthood, but they display a phenotype characteristic of mice bearing hypomorphic Brca1 mutations, including male sterility, reduced body weight, crooked tails, and increased tumor susceptibility. In addition, Brca1S1598F/S1598F cells are defective for several known Brca1 functions, including homology-directed repair of double-strand DNA breaks and the protection of stalled DNA replication forks.

Note: All attempts to remove the neomycin selection cassette by cre-mediated recombination were unsuccessful. For an unknown reason, the outcome was lethal, while animals that retained the selection cassette fared well. Further analysis showed that the selection cassette did not affect Brca1 translation; the animals were phenotypically wild-type.
MeSH Terms
  • Animals
  • BRCA1 Protein/chemistry
  • BRCA1 Protein/metabolism
  • Basic-Leucine Zipper Transcription Factors/genetics
  • Basic-Leucine Zipper Transcription Factors/metabolism
  • Cells, Cultured
  • Disease Models, Animal
  • Embryonic Stem Cells/metabolism
  • Genes, BRCA1
  • Ligands
  • Mammary Neoplasms, Experimental/genetics
  • Mammary Neoplasms, Experimental/metabolism
  • Mice
  • Mutant Proteins/chemistry
  • Mutant Proteins/genetics
  • Mutant Proteins/metabolism
  • Pancreatic Neoplasms/genetics
  • Pancreatic Neoplasms/metabolism
  • Phosphoproteins/metabolism
  • Protein Binding
  • Protein Interaction Domains and Motifs
  • Protein Multimerization
  • RING Finger Domains
  • Tumor Suppressor Proteins/chemistry
  • Tumor Suppressor Proteins/metabolism
  • Ubiquitin-Protein Ligases/chemistry
  • Ubiquitin-Protein Ligases/metabolism
  • BRCA1 Protein
  • Chromosomal Instability/genetics
  • DNA Breaks, Double-Stranded
  • DNA Repair/genetics
  • Female
  • Humans
  • Mutation
  • Protein Domains/genetics
  • Recombinational DNA Repair/genetics
  • Tumor Suppressor Proteins/genetics
  • Ubiquitin-Protein Ligases/genetics
Strain Development

The S1598F mutation was introduced into exon 16 by site-directed mutagenesis. For the target construct, a neomycin cassette, flanked by loxP sites was inserted into intron 16, and a diphtheria toxin gene cassette (DT) was included as a negative selection marker. The targeting construct was electroporated into KV1 ES cells derived from (C57BL/6J x 129S6/SvEvTac)F1. Two independent neomycin-resistant ES clones were genotyped for the Brca1SF-neo knock-in allele and injected into C57BL/6J blastocysts. Germline-transformed Brca1SF-neo/+ heterozygous mice backcrossed with C57BL/6J to N4.

Suggested Control Mice
wild-type
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@missouri.edu. Older strains may not have this information.
Donor
Richard Baer, Ph.D., Columbia University Medical Center.
Primary Reference

Shakya R, Reid LJ, Reczek CR, Cole F, Egli D, Lin CS, deRooij DG, Hirsch S, Ravi K, Hicks JB, Szabolcs M, Jasin M, Baer R, Ludwig T. BRCA1 tumor suppression depends on BRCT phosphoprotein binding, but not its E3 ligase activity. Science. 2011 Oct 28;334(6055):525-8. doi: 10.1126/science.1209909. (Medline PMID: 22034435)

Billing D, Horiguchi M, Wu-Baer F, Taglialatela A, Leuzzi G, Nanez SA, Jiang W, Zha S, Szabolcs M, Lin CS, Ciccia A, Baer R. The BRCT Domains of the BRCA1 and BARD1 Tumor Suppressors Differentially Regulate Homology-Directed Repair and Stalled Fork Protection. Mol Cell. 2018 Oct 4;72(1):127-139.e8. doi: 10.1016/j.molcel.2018.08.016. Epub 2018 Sep 20. (Medline PMID: 30244837)

Colony and Husbandry Information

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@missouri.edu.
Coat Color
Black
Eye
Black
MMRRC Breeding System
Sib-mating
Generation
N4 (C57BL/6J), F?
Overall Breeding Performance
Good
Viability and Fertility: Female Male Comments
Homozygotes are viable: Reduced Reduced
Homozygotes are fertile: Reduced Sterile
Heterozygotes are fertile: Yes Yes
Age Reproductive Decline: Undetermined Undetermined
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@missouri.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 Joan Jose Martinez.

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 Joan Jose Martinez

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
069513-MU-SPERM Cryo-preserved spermatozoa $437.00 / $817.00
Non-Profit / For-Profit
Aliquot Approximate quantity3
069513-MU-RESUS Litter recovered from cryo-archive $2,624.00 / $5,340.00
Non-Profit / For-Profit
Litter Recovered litter4; additional fees for any special requests.
Cryopreserved material may be available upon request, please inquire to mmrrc@missouri.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.