Strain Name:
STOCK Gba1tm1.1Clk Tg(CAG-GBA*L483P)8Clk/Mmjax
Stock Number:
050598-JAX
Citation ID:
RRID:MMRRC_050598-JAX
Other Names:
tg human GCaseL444P

Strain Information

Gba1tm1.1Clk
Name: glucosylceramidase beta 1; targeted mutation 1.1, Lorne A Clarke
Synonyms: deltaGBA
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 3
Alteration at locus: Knockout
Gba1
Name: glucosylceramidase beta 1
Synonyms: glucocerebrosidase, GC, GCase, GBA1, betaGC, Gba
Type: Gene
Species: Mouse
Chromosome: 3
Alteration at locus: Knockout
NCBI: 14466
HGNC: HGNC:4177
Homologene: 68040
Tg(CAG-GBA*L483P)8Clk
Name: transgene insertion 8, Lorne A Clarke
Synonyms: hL444P
Type: Allele
Species: Multi-species
Chromosome: unknown
Alteration at locus: Transgenic
CAG
Name: CMV early enhancer/chicken beta actin promoter/rabbit beta globin splice acceptor
Type: DNA Segment
Species: Multi-species
Chromosome:
Alteration at locus: Transgenic
GBA1
Name: glucosylceramidase beta
Type: Gene
Species: Homo sapiens (human)
Chromosome: 1
Alteration at locus: Transgenic
Genetic Alterations
Random insertion of CAG-driven, human GBA, mutated to substitute the leucine of amino acid position 483 with a proline, on a murine Gba knockout background. This variant is also found as "L444P" in the literature.

HGVS:

  • Genbank RefSeq, mRNA: NM_000157.3
  • Genbank RefSeq, protein: NP_000148.2
  • Variant, nucleic acid level: c.1448T>C
  • Variant, amino acid level, predicted: p.Leu483Pro (L483P)
Phenotype
Biochemical increase in glucosylsphingosine and glucosylceramide. Clinical features of type I Gaucher disease after age 30 weeks
Mammalian Phenotype Terms
Allelic Composition: (Genetic Background: )

MeSH Terms
  • Ambroxol/pharmacology
  • Animals
  • Cerebellum/metabolism
  • Cerebral Cortex/metabolism
  • Disease Models, Animal
  • Enzyme Activation/drug effects
  • Female
  • Gaucher Disease/enzymology
  • Gaucher Disease/genetics
  • Gene Expression
  • Genetic Variation
  • Genotype
  • Glucosylceramidase/genetics
  • Glucosylceramidase/metabolism
  • Humans
  • Imino Pyranoses/pharmacology
  • Liver/metabolism
  • Male
  • Mice
  • Mice, Transgenic
  • Mutation
  • Phenotype
  • Spleen/metabolism
  • Spleen/pathology
Strain Development
Donor kept this colony by breeding Gba-/- L444P transgene-positive mice with Gba-/+ mice. Other details found in PMID:23642305.
Suggested Control Mice
C57BL/6
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.
  • Metabolism
  • Models for Human Disease
  • Neurobiology
Donor
Lorne Clarke, M.D., University of British Columbia.
Primary Reference

Sanders A, Hemmelgarn H, Melrose HL, Hein L, Fuller M, Clarke LA. Transgenicmice expressing human glucocerebrosidase variants: utility for the study ofGaucher disease. Blood Cells Mol Dis. 2013 Aug;51(2):109-15. doi:10.1016/j.bcmd.2013.03.006. Epub 2013 Apr 30. (Medline PMID: 23642305)

Colony and Husbandry Information

Cryo-recovered strains distributed by the MMRRC at JAX are shipped to the customer from the Pathogen & Opportunistic-Free Animal Room G200 - see https://www.jax.org/jax-mice-and-services/customer-support/customer-service/animal-health/health-status-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 csmmrrc@jax.org.
Coat Color
Black
Eye
Black
MMRRC Breeding System
Other or uncertain
Generation
N/A
Overall Breeding Performance
Excellent
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: Undetermined Undetermined
Homozygotes are fertile: N/A N/A
Hetero/Hemizygotes are fertile: Yes Yes
Age Reproductive Decline: Undetermined Undetermined
Average litter size
7-9
Recommended wean age
4 Weeks
Average Pups Weaned
5-9

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 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 Robyn Law.

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 Robyn Law

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
050598-JAX-SPERM Cryo-preserved spermatozoa $437.00 / $437.00
Non-Profit / For-Profit
Aliquot Approximate quantity3
050598-JAX-RESUS Litter recovered from cryo-archive $2,022.00 / $2,022.00
Non-Profit / For-Profit
Litter Recovered litter4; additional fees for any special requests.
Cryopreserved material may be available upon request, please inquire to csmmrrc@jax.org 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.