Strain Name:
STOCK Is(SYNGAP1-ZBTB9)1Bpro/Mmjax
Stock Number:
069939-JAX
Citation ID:
RRID:MMRRC_069939-JAX
Other Names:
C57BL/6-Is(SYNGAP1-ZBTB9)1Bpro/Mmjax; Syngap1^hu

Strain Information

Is(SYNGAP1-ZBTB9)1Bpro
Name:
Type: Allele
Species: Multi-species
Chromosome: 17
Syngap1
Name: synaptic Ras GTPase activating protein 1 homolog (rat)
Synonyms: Syngap
Type: Gene
Species: Mouse
Chromosome: 17
NCBI: 240057
Homologene: 84739
Zbtb9
Name: zinc finger and BTB domain containing 9
Synonyms: 3930402F13Rik
Type: Gene
Species: Mouse
Chromosome: 17
NCBI: 474156
Homologene: 45145
Genetic Alterations
Humanized SYNGAP1hu knock-in/knock-out mice express human SYNGAP1. RT-qPCR analysis from the mouse cortex indicates that these mice express no detectable mouse Syngap1, but do express an equivalent level of human SYNGAP1. This strain may be useful for studies of intellectual disability (ID) and autism spectrum disorder (ASD).
ES Cell Line
Not specified
Phenotype
Mutations that cause intellectual disability (ID) and autism spectrum disorder (ASD) are commonly found in genes that encode for synaptic proteins. Syngap1 [synaptic Ras GTPase activating protein 1 homolog (rat)] encodes a synaptic RasGAP (SynGAP) that is largely localized to dendritic spines in neocortical pyramidal neurons, where it suppresses signaling pathways linked to NMDA receptor (NMDAR)-mediated synaptic plasticity and AMPA receptor (AMPAR) membrane insertion. Syngap1 has alternative transcriptional start sites and several alternatively spliced C-terminal exons that result in many possible SynGAP isoforms. Human SYNGAP1 haploinsufficiency results from a truncation of the full-length protein.

Humanized SYNGAP1hu knock-in/knock-out mice have a BAC expressing human SYNGAP1 and ZBTB9 that replace the coding region of the mouse Syngap1 and most of Zbtb9 locus. Mice homozygous for the mutation are viable and fertile with no obvious phentoype. RT-qPCR analysis from the mouse cortex indicates that these mice express no detectable mouse Syngap1, but do express an equivalent level of human SYNGAP1.
Strain Development
The SYNGAP1hu targeting vector contains from 5' to 3' a loxP site, an FRT-flanked neomycin cassette, a human genomic DNA 37.5kb BAC encoding SYNGAP1 and the adjacent ZBTB9 (ENSMUST00000194598.6) genes, an F3-flanked hygromycin, followed by a second loxP site is used to replace the entire genomic region of the Syngap1 and up to the STOP codon of the Zbtb9 gene on chromosome 17. The insertion results in a knock-out of the mouse Syngap1 and Zbtb9 genes. The construct was electroporated into C57BL/6-derived embryonic stem (ES) cells (Ozgene). Correctly targeted ES cells were injected into blastocysts. Chimeric animals were bred to Flp deleter mice (Ozgene) on the C57BL/6 background to remove the neomycin and hygromycin cassettes. The resulting mice were on the C57BL/6 background (see SNP note below). Flp and hygro have been bred out of the colony. Upon arrival, mice were bred to C57BL/6J for at least one generation to establish the colony.

In 2023, a 48 SNP (single nucleotide polymorphism) panel analysis, with 43 markers covering all 19 chromosomes and the X chromosome, as well as 5 markers that distinguish between the C57BL/6J and C57BL/6N substrains, was performed on the rederived living colony at The Jackson Laboratory Repository. Results indicated a mix of C57BL/6 substrains and an unknown contribution on chromosome 9.
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.
Donor
Benjamin Prosser, Ph.D., University of Pennsylvania.
Primary Reference
Not ready to publish

Colony and Husbandry Information

For more information about this colony's health status contact csmmrrc@jax.org
Coat Color
Black
Eye
Black
MMRRC Breeding System
Sib-mating
Generation
N/A
Overall Breeding Performance
Undetermined
Viability and Fertility: Female Male Comments
Homozygotes are viable: Yes Yes
Homozygotes are fertile: Yes Yes
Heterozygotes are fertile: Yes Yes
Age Reproductive Decline: Undetermined Undetermined
Average litter size
Undetermined
Recommended wean age
4 Weeks
Average Pups Weaned
Undetermined

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.

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
069939-JAX-HOM-F
069939-JAX-HOM-M
Homozygous Female
Homozygous Male
$218.00 / $218.00
Non-Profit / For-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.