Strain Name:
STOCK Gba1tm1Rlp Sncatm1Nbm Tg(SNCA)1Nbm/Mmjax
Stock Number:
037801-JAX
Citation ID:
RRID:MMRRC_037801-JAX
Other Names:
Gbatm1Rlp Sncatm1Nbm Tg(SNCA*WT)1Nbm

Strain Information

Gba1tm1Rlp
Name: glucosylceramidase beta 1; targeted mutation 1, Richard L Proia
Synonyms: L444P, GbaL444P
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 3
Alteration at locus: Knock-In
Gba1
Name: glucosylceramidase beta 1
Synonyms: glucocerebrosidase, GC, GCase, GBA1, betaGC, Gba
Type: Gene
Species: Mouse
Chromosome: 3
Alteration at locus: Knock-In
NCBI: 14466
HGNC: HGNC:4177
Homologene: 68040
Sncatm1Nbm
Name: synuclein, alpha; targeted mutation 1, Robert L Nussbaum
Synonyms: Snca-, Scna-
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 6
Alteration at locus: Knockout
Snca
Name: synuclein, alpha
Synonyms: alphaSYN, alpha-synuclein, alpha-Syn
Type: Gene
Species: Mouse
Chromosome: 6
Alteration at locus: Knockout
NCBI: 20617
Homologene: 293
Tg(SNCA)1Nbm
Name: transgene insertion 1, Robert L Nussbaum
Synonyms: PAC-Tg(SNCAWT), hSNCAWT
Type: Allele
Species: Homo sapiens (human)
Chromosome: unknown
Alteration at locus: Transgenic
SNCA
Name: synuclein, alpha (non A4 component of amyloid precursor)
Type: Gene
Species: Homo sapiens (human)
Chromosome: 4
Alteration at locus: Transgenic
Genetic Alterations

This strain is the result of a cross of three mouse lines: (1) a transgenic insertions of a P1 artificial chromosome containing the wild-type human SNCA gene, (2) a knockout of the mouse Snca gene, and (3) the L461P-mutant line ("L444P"; see note below); see also MMRRC:117.

HGVS nomenclature:
  • Gbatm1Rlp allele:
    • Genbank RefSeq, protein: NP_001070879.1
    • Variant, nucleic acid level: c.1384_1385delinsCC
    • Variant, amino acid level, predicted: p.Leu461Pro
      Check this variant: LUMC Mutalyzer
      Note: 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.

  • Tg(SNCA*A53T)1Nbm and Tg(SNCA*A53T)1Nbm alleles:
    • Genbank RefSeq - mRNA: NM_000345.4
    • Genbank RefSeq, protein: NP_000336.1
    • Variant, nucleic acid level: c.157G>A
    • Variant, amino acid level, predicted: p.Ala53Thr
      Check this variant: LUMC Mutalyzer
This strain is the control for MMRRC:37633.
ES Cell Line
Not applicable
Phenotype

Homozygous: Homozygosity for the L444P (Gbatm1Rlp) knock-in allele is a very early postnatal lethal due to neurological and dermatological abnormalities.

Hemizygous: No observed phenotype

Mammalian Phenotype Terms
Allelic Composition: Gbatm1Rlp/Gbatm1Rlp (Genetic Background: involves: 129S4/SvJae )

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

Allelic Composition: Sncatm1Nbm/Sncatm1Nbm (Genetic Background: involves: 129S6/SvEvTac * FVB/N )

MeSH Terms
  • Animals
  • Disease Models, Animal
  • Gaucher Disease/complications
  • Gaucher Disease/genetics
  • Gene Expression
  • Genotype
  • Glucosylceramidase/genetics
  • Heterozygote
  • Mice, 129 Strain
  • Mice, Transgenic
  • Mutation/genetics
  • Parkinson Disease/complications
  • Parkinson Disease/genetics
  • Phenotype
  • alpha-Synuclein/genetics
  • alpha-Synuclein/metabolism
Strain Development
Transgenic insertion with Pac 27M7 containing human wild-type SNCA. This line was crossed to a Snca knockout line. Double heterozygotes were selected and bred to "L444P" (Gbatm1Rlp) heterozygotes (MMRRC:117). Progeny were sib-mated to get the strain homozygous for the PAC insertion, homozygous for the Snca knockout, and heterozygous for "L444P" (Gbatm1Rlp) knock-in allele.
Suggested Control Mice
Wild-type littermates
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.
  • Models for Human Disease
    • Parkinson Disease
    • Gaucher Disease
  • Neurobiology
Donor
Robert L. Nussbaum, M.D., University of California, San Francisco.
Richard Proia, Ph.D., National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health.
Primary Reference

Fishbein I, Kuo YM, Giasson BI, Nussbaum RL. Augmentation of phenotype in a transgenic Parkinson mouse heterozygous for a Gaucher mutation. Brain. 2014 Dec;137(Pt 12):3235-47. Epub 2014 Oct 27. (Medline PMID: 25351739)

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
Agouti
Eye
Brown
MMRRC Breeding System
Random intra-strain mating
Breeding Scheme(s)
  • Wild-type female x Hetero/hemizygous male from the colony or reciprocal mating
  • Hetero/hemizygous female x Hetero/hemizygous male from the colony
Generation
F24
Overall Breeding Performance
Good
Viability and Fertility: Female Male Comments
Homozygotes are viable: No No
Homozygotes are fertile: No No
Heterozygotes are fertile: Yes Yes
Age Reproductive Decline: 4 to 6 months 4 to 6 months
Average litter size
4-6
Recommended wean age
3 weeks
Average Pups Weaned
4-6

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 csmmrrc@jax.org 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 $)
*Shipping & Handling not included*
Units Notes
037801-JAX-SPERM Cryo-preserved spermatozoa $437.00 / Non-Profit Aliquot Approximate quantity3
037801-JAX-RESUS Litter recovered from cryo-archive $2,022.00 / Non-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.