Strain Name:
B6;129S4-Gbatm1Rlp/Mmnc
Stock Number:
000117-UNC
Citation ID:
RRID:MMRRC_000117-UNC

Gene Information

Gbatm1Rlp
Name: glucosidase, beta, acid; targeted mutation 1, Richard L Proia
Synonyms: GbaL444P, L444P
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 3
Alteration at locus: Knockout
Gba
Name: glucosidase, beta, acid
Synonyms: GC, GCase, betaGC, glucocerebrosidase, GBA1
Type: Gene
Species: Mus musculus (mouse)
Chromosome: 3
Alteration at locus: Knockout
NCBI: 14466
HGNC: HGNC:4177
Homologene: 68040
Genetic Alterations
The human Gaucher disease mutation, Gbatm1Rlp ("L444P"; see noete below), was introduced into the target gene by knock-in. The gene is partially duplicated by the procedure.

HGVS nomenclature:
Notes: The original publication (PMID:9482915) spoke of L444P. To align the nomenclature with HGVS standards, the details above provide the adjusted notation and reference based on Fig. 1C of PMID:9482915.
Genotype Determination
  • Genotyping Protocol(s)
  • Center protocol and contact for technical support will be shipped with mice.
  • ES Cell Line
    J1 derived from 129S4/SvJae
    Phenotype
    Some features of Gaucher disease. Low beta-glucosidase activity, hyperinflammation, plasmacytosis, swollen lymph nodes, elevated cytokines.
    Mammalian Phenotype Terms
    Allelic Composition: Gbatm1Rlp/Gbatm1Rlp (Genetic Background: involves: 129S4/SvJae )

    Allelic Composition: Gbatm1Rlp/Gbatm1Rlp (Genetic Background: involves: 129S4/SvJae * C57BL/6 )

    MeSH Terms
    • Animals
    • Gaucher Disease/enzymology
    • Gaucher Disease/pathology
    • Gaucher Disease/physiopathology
    • Glucosylceramidase/deficiency
    • Glucosylceramidase/genetics
    • Glucosylceramidase/metabolism
    • Glucosylceramides/metabolism
    • Humans
    • Inflammation/enzymology
    • Inflammation/pathology
    • Inflammation/physiopathology
    • Liver/pathology
    • Lung/pathology
    • Lymph Nodes/pathology
    • Macrophages/metabolism
    • Macrophages/ultrastructure
    • Mice
    • Mice, Inbred C57BL
    • Mice, Knockout
    • Mice, Transgenic
    • Skin/pathology
    • Amino Acid Sequence
    • Base Sequence
    • Brain/metabolism
    • Brain/pathology
    • Gaucher Disease/classification
    • Gaucher Disease/genetics
    • Glucosylceramidase/biosynthesis
    • Glucosylceramidase/chemistry
    • Liver/metabolism
    • Mice, Inbred Strains
    • Mutagenesis, Insertional
    • Point Mutation
    • Recombinant Proteins/biosynthesis
    • Recombinant Proteins/chemistry
    • Restriction Mapping
    • Sphingolipids/metabolism
    Strain Development

    Originally, mice carrying the Gbatm1Rlp allele were bred with mice harboring a knockout glucosylceramide synthase (Ugcg) allele. Subsequently, the Ugcg allele was eliminated, and the current strain only carries the Gbatm1Rlp mutation. Homozygous Gbatm1Rlp mice die 24-48 hours after birth.

    A sample from this MMRRC strain was analyzed using the Mouse Universal Genotyping Array (MUGA) and MMRRC computational tools were used to assess the genetic background. A summary of the data can be found here.

    MMRRC Strain Reference Strains Genomic makeup (Mb)
    Strain Name MMRRC ID # Reference 1 Reference 2 Ref 1 Ref 2 Het Unknown
    B6;129S4-Gbatm1Rlp/Mmnc 117 C57BL/6J 129S4/AK7 796 824 913 48
    Suggested Control Mice

    (C57BL/6 x 129/Sv)F1

    • Models some features of Gaucher disease. Useful for studies of pathogenesis and therapy.
    Donor
    Richard Proia, Ph.D., National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health.
    Primary Reference

    Mizukami H, Mi Y, Wada R, Kono M, Yamashita T, Liu Y, Werth N, Sandhoff R, Sandhoff K, Proia RL.,Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage, May 2002, Volume 109, J. Clin. Invest. 9, 1215-1221. (Medline PMID: 11994410)

    Liu Y; Suzuki K; Reed JD; Grinberg A; Westphal H; Hoffmann A; Doring T; Sandhoff K; Proia RL, Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure., Proc Natl Acad Sci U S A 1998 Mar 3;95(5):2503-8 (Medline PMID: 9482915)

    Colony and Husbandry Information

    The pups have some skin defects that can compromise survival. Soft bedding (wood chips) works best.

    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 .
    Coat Color
    Agouti/black
    MMRRC Breeding System
    Intra-strain mating
    Breeding Scheme(s)
    • Heterozygous Female x Heterzygous Male
    Overall Breeding Performance
    Good
    Viability and Fertility: Female Male Comments
    Homozygotes are viable: Yes Yes Homozygotes are viable only if the Ugcg gene is present.
    Homozygotes are fertile: Yes Yes
    Heterozygotes are fertile: Yes Yes
    Age Reproductive Decline: Unknown Unknown
    Average litter size
    8
    Recommended wean age
    3 weeks
    Average Pups Weaned
    4

    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@med.unc.edu for more information.

    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.

    The donor or their institution limits the distribution to non-profit institutions only.

    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 $) Units Notes
    000117-UNC-EMBRYO Cryo-preserved embryos $1,363.00 / Non-Profit Aliquot Approximate quantity2 : 20-40 embryos / aliquot
    000117-UNC-RESUS Litter recovered from cryo-archive $2,829.00 / Non-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.