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17q12Del mice have a 1.2 Mb deletion on syntenic mouse chromosome 11qC. 17q12 deletion syndrome is associated with neurodevelopmental disorders and renal cysts and diabetes syndrome (RCAD). The 17q12Del mouse phenocopies several features of the human disorder including, craniofacial and brain malformations in deletion mice, along with renal and diabetes phenotypes.
CRISPR/cas9 genome editing was used to delete the 11qC region of the mouse genome between chr11:83791635-84938224 Mb [GRCm38.p6 (mm10), NCBI Reference Sequence, NC_000077.6]. The mouse deletion matches the consensus human deletion between chr17:31.8-33.2 Mb (GRCh38.p13, NCBI Reference Sequence, NC_000017.11). The 17q12 deletion removed all genes downstream of Gm11434 and upstream of Gm33028 including Aatf, Acaca, Gm11437, Ddx52, Dhrs11, Dusp14, Ggnbp2, Lhx1, Hnf1b, Mrm1, Myo19, Pigw, Synrg and Znhit3. sgRNAs were targeted to upstream of Hnf1b and downstream of Znhit3. sgRNAs, Cas9 endonuclease, and donor ssDNA were introduced into C57BL/6-derived zygotes. Embryos were transferred to pseudopregnant females, and correctly targeted pups were bred to C57BL/6 mice for germline transmission. Comparative genomic hybridization was used to confirm the deletion. Mice were outcrossed to the outbred CD-1 background for at least 5 generations. Upon arrival, sperm was cryopreserved.
Warren EB, Briano JA, Ellegood J, DeYoung T, Lerch JP, Morrow EM. 17q12 deletion syndrome mouse model shows defects in craniofacial, brain and kidney development, and glucose homeostasis. Dis Model Mech. 2022 Dec 1;15(12):dmm049752. doi: 10.1242/dmm.049752. Epub 2022 Dec 13. (Medline PMID: 36373506)
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.
The donor or their institution limits the distribution to non-profit institutions only.
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.