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function de novo mutations in SYNGAP1 cause SYNGAP1-related intellectual disability (SRID). SRID isconsidered a spectrum disorder with symptoms that can include; seizure, intellectual disability (mild tosevere), severe behavioral problems, high pain threshold, hypotonia, eating problems, autism spectrumdisorder and ataxia/gait abnormalities. Large exome sequencing projects in the UK found SYNGAP1 to be the 5th most prevalent gene in Neurodevelopmental Disorders (NDD). A previous publication found that Syngap1 +/- mice had recurrent spontaneous seizures, which progressed in duration and type from P60 to P120 (Sullivan et al., 2021). This mouse model (MMRRC:71699), is a model of a novel patient variant Syngap1Q503X/+ and is currently being characterized.
Syngap1 Q503X/+ knock-in mice were generated via endonuclease-mediated (CRISPR) microinjection into C57BL/6J zygotes (JAX Stock #000664). Successfully targeted progeny were identified via Sanger sequencing. Resulting mice were bred several times to C57BL/6J mice before being bed to 129S1/SvImJ mice.
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.
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.
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.
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.
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