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CRISPR/Cas9-mediated base exchange leading to premature stop, mimicking a human mutation in CDKL5 deficiency disorder.
HGVS Nomenclature:
This mouse model bears a c.2564C>G exchange, predicting premature truncation at p.Ser855 mutation in Cdkl5. In humans, this mutation leads to CDKL5 deficiency disorder (CDD), associated with infantile epilepsy. CDD is a devastating monogenic disorder associated with several phenotypes, including epilepsy, autism, and developmental deficits. Common features in multiple disorders associated with phenotypes similar to CDD are synaptic alterations. CDKL5 encodes cyclin-dependent kinase like 5, a protein with homology to serine-threonine kinases and incompletely characterized function. Multiple independent point mutations have been identified in CDD. The majority of studies in the CDD field have focused on Cdkl5-null mice. However, most CDD patients have point mutations that do not lead to complete loss of protein. Pathogenic point mutations in CDD occur both within and outside the kinase domain, thus, multiple regions of the protein may contribute to the pathology. While several human mutations in CDD are known, most are unique. The S855* is a recurrent mutation in CDD. In humans, the S855* is associated with infantile epilepsy. This is not localized in the kinase domain and results in a C-terminally truncated protein with the kinase domain predicted to be intact.
Colony Surveillance Program and Current Health 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 mmrrc@ucdavis.edu for more information.
The donor or their institution limits the distribution to non-profit institutions only.
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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