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Availability & Fees Order this Strain
To create this allele, CRISPR/Cas9 endonuclease-mediated genome editing of exon 13 was used to introduce alterations predicting a conditional missense that corresponds to the human R488H mutation associated with intellectual development disorder, X-linked, syndromic, Snijers Blok type.Prior to cre recombination, this allele would express the wildtype (WT) protein. Expression of cre into a mouse strain carrying this allele would result in a cre-mediated deletion between the two loxP sequences. This would result in a deletion of the exon 13-17+bGH poly(A) termination domain. RNA splicing would proceed from exon 12 to the mutant exon 13 containing the R488H missense mutation and into the subsequent endogenous 3’ exons. Translation termination would occur at the native termination codon and transcription termination would occur within the endogenous 3’ UTR.
The DEAD box helicase 3, X-linked gene (Ddx3x) encodes a conserved DEAD-Box RNA helicase that is important in a variety of cellular processes, including transcription, splicing, RNA transport and translation. The protein is involved in the Wnt/Beta Catenin signaling pathway and is associated with Wnt-driven medullablastoma. Mutations in this gene have been associated with intellectual development disorder, X-linked, syndromic, Snijers Blok type (MRXSSB). MRXSSB is characterized by mildly to severely impaired intellectual development with variable other features including brain abnormalities, microcephaly, hypotonia, movement disorder and/or spasticity, ventricular enlargement, hypoplasia, and behavioral problems.
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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