Strain Name:
B6J.Cg(129S1)-Dp(3Gpr89-Prkab2)1Uru/UruMmmh
Stock Number:
068234-MU
Citation ID:
RRID:MMRRC_068234-MU
Other Names:
1q21.1 duplication mice; B6.Cg(129S1)-Dup(3Gpr89-Prkab2)1Uru

Strain Information

Dp(3Gpr89-Prkab2)1Uru
Name: duplication, Chr 3, Uwe Rudolph 1
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 3
Prkab2
Name: protein kinase, AMP-activated, beta 2 non-catalytic subunit
Synonyms: 5730553K21Rik
Type: Gene
Species: Mouse
Chromosome: 3
NCBI: 108097
HGNC: HGNC:9379
Homologene: 38046
Gpr89
Name: G protein-coupled receptor 89
Synonyms: 4933412D19Rik, SH120
Type: Gene
Species: Mouse
Chromosome: 3
NCBI: 67549
Homologene: 9475
Genetic Alterations
Combination of two gene targetings to generate two loxP sites followed by trans-allelic recombination in vivo to generate the genomic 0.8-Mb duplication.

For the 1q21.1 deletion (MMRRC:68233) and duplication (MMRRC:68234), the deleted or duplicated genes are:

  • Prkab2 (protein kinase, AMP-activated, b2 non-catalytic subunit),
  • Fmo5 (flavin-containing monooxygenase 5),
  • Chd1l (chromodomain helicase DNA binding protein),
  • Bcl9 (B cell lymphoma 9 protein),
  • Acp6 (lysophophatidic acid phosphatase 6),
  • Gja5 (gap junction protein a5),
  • Gja8 (gap junction protein a8), and
  • Gpr89 (G protein-coupled receptor 89).
ES Cell Line
v6.5 derived from (C57BL/6 x 129S4/SvJae)F1
Phenotype
Together with collaborators Dr. Michael Kobor (UBC) and Dr. Takao Hensch (Harvard), the donor performed a genome-wide DNA methylation analysis and has a manuscript in preparation with the working title “1q21.1 copy number variation drives differential DNA methylation at neuropsychiatric disease-associated genes.” Differentially methylated sites in deletion mice were enriched for genes associated with schizophrenia.

Donor Note: Copy number variations in the 1q21.1 and 15q13.3 regions have been linked to neurodevelopmental disorders like schizophrenia and autism at a genome-wide level (PMID:26130694).
Strain Development

The donor constructed mice with a 0.8-Mb duplication or deletion on mouse chromosome 3F2.1 and 3F2.2 syntenic with the human 1q21.1 region by trans-allelic recombination in vivo. Briefly, loxP sites were inserted into the mouse genome to flank the region to be duplicated/deleted, using V6.5 ES cells derived from C57BL/6J x 129S4/SvJae. Mice were bred that carry the two loxP sites in trans and an Hprt-Cre transgene (RRID:IMSR_JAX:004302). When breeding these mice to wild-type mice, the donor obtained offspring that carried either the duplication (1/65, 1.5%) or the deletion (5/65, 7.7%), demonstrating trans-allelic recombination in the germline. Both deletion and duplication alleles were confirmed by PCR and by comparative genomic hybridization. The selectable neo markers were deleted by Flp/FRT-mediated recombination in the germline (RRID:IMSR_JAX:003800) prior to combining the loxP alleles in the animal. The mice have been backcrossed to C57BL/6J for at least 10 generations.

Suggested Control Mice
Wild-type offspring from breeding hemizygous x C57BL/6J wild-type mice
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 mmrrc@missouri.edu. Older strains may not have this information.
  • Models for Human Disease
  • Neurobiology
Donor
Uwe Rudolph, M.D., University of Illinois at Urbana-Champaign.
Primary Reference
In preparation, submitted, or in press

Colony and Husbandry Information

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@missouri.edu.
Coat Color
Black
Eye
Black
MMRRC Breeding System
Backcross
Generation

N10+ (C57BL/6J)

Overall Breeding Performance
Excellent
Viability and Fertility: Female Male Comments
Homozygotes are viable: Undetermined Undetermined
Homozygotes are fertile: Undetermined Undetermined
Heterozygotes are fertile: Yes Yes
Age Reproductive Decline: 10 to 12 months 10 to 12 months
Average litter size
4 to 6
Recommended wean age
3 Weeks
Average Pups Weaned
4 to 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 mmrrc@missouri.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 Sherene Shenouda.

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 Sherene Shenouda

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
068234-MU-SPERM Cryo-preserved spermatozoa $437.00 / $817.00
Non-Profit / For-Profit
Aliquot Approximate quantity3
068234-MU-RESUS Litter recovered from cryo-archive $2,624.00 / $5,340.00
Non-Profit / For-Profit
Litter Recovered litter4; additional fees for any special requests.
Cryopreserved material may be available upon request, please inquire to mmrrc@missouri.edu for more information.

Some MMRRC strains were submitted by the donor as cryopreserved germplasm, and because these strains were not cryopreserved by the MMRRC, we have not assessed the quality, nor genotype, of this material. Our expertise in reviving mice from various qualities of frozen sperm and embryos, using methods like IVF and ICSI, gives us confidence in successful recoveries in most cases. However, due to the uncertain quality of these samples, we'll limit revival attempts to two per order. Additional attempts are available for a fee, on top of standard charges, if requested. It's important to note that some strains may lack the expected mutation, so we can't assure successful order fulfillment until we attempt to revive the strain.

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.