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Strain Detail Sheet

Published: 09/15/2025
Revised: 09/15/2025

Strain Name:
CByJ.129S6(Cg)-Borcs7Q87X/BhkMmnc
Stock Number:
075800-UNC
Citation ID:
RRID:MMRRC_075800-UNC
Other Names:
Borcs7Q87X/Q87X.

Strain Information

Gene Details

Borcs7tm1Bhk
Name: BLOC-1 related complex subunit 7; targeted mutation 1, Beverly H Koller
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 19
Alteration at locus: Knockout
Borcs7
Name: BLOC-1 related complex subunit 7
Synonyms: 2010012O05Rik
Type: Gene
Species: Mouse
Chromosome: 19
Alteration at locus: Spontaneous Mutation
NCBI: 66439
VEGA: 19
Homologene: 16941

Additional Resources
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Borcs7Q87X
Name: BLOC-1 related complex subunit 7; Q87X
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 19
Alteration at locus: Spontaneous Mutation
Genetic Alterations
A spontaneous C-to-T mutation was identified that is a single base pair substitution in exon 4 generating a nonsense mutation in which the glutamine at amino acid 87 is mutated to a premature stop codon (Q87X) and results in a truncated protein lacking 18 amino acids at its C terminus.
Genotype Determination
  • Genotyping Protocol(s)
  • Center protocol and contact for technical support will be shipped with mice.
    • ES Cell Line
    129Sv

    Strain Description

    Phenotype
    These mice carry a spontaneous truncation mutation in the mouse Borcs7 gene, identified through whole-genome sequencing followed by genetic complementation. The mutation results in progressive axonal dystrophy with dramatic impairment of motor function. Human mutation variants have now been identified. In humans, biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosomal dynamics.

    The donating investigators report that the mutation is perinatal lethal in Borcs7 knockout mice generated as a control for the truncated mutation. Male and female mice can mate successfully however, the first litters arrive around the same time neurological issues are observed, requiring animal care needs to intensify.

    MeSH Terms
    • Animals
    • Axonal Transport
    • Female
    • Locomotion
    • Loss of Function Mutation
    • Lysosomal Membrane Proteins/genetics
    • Lysosomes/metabolism
    • Male
    • Mice
    • Mice, Inbred BALB C
    • Mice, Inbred C57BL
    • Neuroaxonal Dystrophies/genetics
    • Neurons/metabolism
    Strain GQC Summary
    Gene Specific Genotyping:

    To request gene-specific and other genotyping services for a strain, please contact the distribution MMRRC Center for more information.

    Background Genetic Quality:

    The MMRRC has developed a Genetic Quality Control pipeline using the MiniMUGA array to provide additional information to identify and validate genetic backgrounds of MMRRC strains. For more information on whether genetic background data is available, please contact MMRRC_GeneticQC@med.unc.edu. Note: that MiniMUGA genetic background data is not available on all strains, but can be ordered if desired.

    Suggested Control Mice
    Littermates of all relevant genotypes.

    Research Applications

    • Apoptosis
    • Developmental Biology
    • Immunology and Inflammation
    • Neurobiology
    • Sensorineural

    Strain Origin

    Donor
    Beverly Koller, Ph.D., University of North Carolina at Chapel Hill.
    Primary Reference

    Snouwaert JN, Church RJ, Jania L, Nguyen M, Wheeler ML, Saintsing A, Mieczkowski P, Manuel de Villena FP, Armao D, Moy SS, Lorenzo DN, Koller BH. A Mutation in the Borcs7 Subunit of the Lysosome Regulatory BORC Complex Results in Motor Deficits and Dystrophic Axonopathy in Mice. Cell Rep. 2018 Jul 31;24(5):1254-1265. doi: 10.1016/j.celrep.2018.06.118. (Medline PMID: 30067980)

    Strain Development

    The mutation appears to have occurred on a 129S6/SvEvTac background, was interbred where several backgrounds (129S6/SvEvTac, C57BL/6 and DBA/2 ) were introduced. Ultimately the mutation was backcrossed to BALB/cBy for at least 6 generations. Donating researchers determined the mutation lies in a 129S6 chromosomal region.


    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

    After 6 to 8 week the mice homozygous for the truncation mutation begin to show phenotype...difficulty rearing and movenent of hind limbs ...we keep food on the floor throughout.

    Health Status Report

    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_health@med.unc.edu.

    Appearance

    Coat Color
    White
    Eye
    Pink

    Breeding

    MMRRC Breeding System
    Sib-mating
    Generation
    6 generation to BALB/cBy
    Overall Breeding Performance
    Excellent

    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: Variable Variable
    Average litter size
    7 to 9
    Recommended wean age
    3 Weeks
    Average Pups Weaned
    Variable

    Order Information

    Availability Level

    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@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 Carmen Melvin.

    Conditions of Distribution

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

    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.

    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
    075800-UNC-RESUS Litter recovered from cryo-archive $3,242.00 / $5,382.00
    Non-Profit / For-Profit    		 Litter Recovered litter4; additional fees for any special requests.
    Cryopreserved material may be available upon request, please inquire to mmrrc@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.