Strain Name:
STOCK Gba1tm1Rlp Tg(SNCA*A53T)1Nbm Sncatm1Nbm Tg(SNCA*A53T)2Nbm/Mmjax
Stock Number:
037633-JAX
Citation ID:
RRID:MMRRC_037633-JAX
Other Names:
dbl-PAC-Tg(SNCAA53T)+/+;Snca-/-; GbaL444P/+

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: betaGC, GC, GCase, GBA1, Gba, glucocerebrosidase
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: alpha-Syn, alphaSYN, alpha-synuclein
Type: Gene
Species: Mouse
Chromosome: 6
Alteration at locus: Knockout
NCBI: 20617
Homologene: 293
SNCA
Name: synuclein, alpha (non A4 component of amyloid precursor)
Type: Gene
Species: Homo sapiens (human)
Chromosome: 4
Alteration at locus: Knockout
Tg(SNCA*A53T)1Nbm
Name: transgene insertion 1, Robert L Nussbaum
Synonyms: hSNCAA53T, PAC-Tg(SNCAA53T)
Type: Transgene
Species: Mus musculus (mouse)
Chromosome: unknown
Alteration at locus: Transgenic
Tg(SNCA*A53T)2Nbm
Name: transgene insertion 2, Robert L Nussbaum
Synonyms: PAC-Tg(SNCAA53T), hSNCAA53T
Type: Transgene
Species: Mus musculus (mouse)
Chromosome: unknown
Alteration at locus: Transgenic
Genetic Alterations

This strain is the result of a cross of four mouse lines. Two of them are transgenic insertions of a P1 artificial chromosome containing the human SNCA gene with the A53T mutation. The third line is a knockout of the mouse Snca gene. The fourth is 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
Update 08 September 2022:
  • The PAC-Tg(SNCA*A53T) line 1 has 6 copies inserted on Chr3 126 Mb (12 copies as a homozygote) and the PAC-Tg(SNCA*A53T) line 2 has 3 copies inserted on Chr14 111 Mb (6 copies as homozygote). As such, mice homozygous for both line 1 and line 2 would have a total of 18 copies of SNCA*A53T.
ES Cell Line
Gbatm1Rlp: J1 (129S4/SvJae)
Sncatm1Nbm : TC1/TC-1 (129S6/SvEvTac)
Phenotype

Homozygous: Constipation, reduced whole-gut transit time, reduced latency on roto-rod

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
Crossed the p1-artificial chromosome SNCA transgenics onto the Snca knockout background, then crossed them with the L444P/Gba mice and did random intrastrain matings to generate mice that were homozygous for the Snca knockout, homozygous for both insertion sites of the P1 artificial chromosome carrying SNCA, and heterozygous for the L444P.
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
  • 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

Mice homozygous for Sncatm1Nbm, Tg(SNCA*A53T)1Nbm, and/or Tg(SNCA*A53T)2Nbm alleles are viable and fertile. Mice homozygous for the Gbatm1Rlp allele do not survive the immediate newborn period.

For more information about this colony's health status contact csmmrrc@jax.org
Coat Color
Mixed
MMRRC Breeding System
Random intra-strain mating
Overall Breeding Performance
Good
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: Yes Yes
Homozygotes are fertile: Yes Yes
Hetero/Hemizygotes are fertile: Yes Yes
Age Reproductive Decline: 5 months 6 months
Average litter size
5-9
Recommended wean age
3-4 weeks
Average Pups Weaned
5-9

Order Request Information

Limited quantities of breeder mice (up to 2 males and 2 females or 4 mice) per investigator per month are available from a live colony, usually available to ship in under 12 weeks. Larger quantities may be available, please contact the distributing center directly at csmmrrc@jax.org for more details.

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
037633-JAX-HOM-F
037633-JAX-HOM-M
037633-JAX-HET-F
037633-JAX-HET-M
Homozygous Female
Homozygous Male
Heterozygous / Hemizygous Female
Heterozygous / Hemizygous Male
$218.00 / Non-Profit Per Mouse The csmmrrc@jax.org may assess additional fees for any special requests (e.g., specific age or weight of mice, etc.).
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.