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Availability & Fees Order this Strain
This allele has the same phenotype as the original spontaneous Sey allele (MGI:1856155 - paired box 6; small eye - PMID:1684639, PMID:3794606, and Roberts, Genet. Res. 9:121–122) on the C57BL/6J background (PMID:30258099). The donor did not observe any impact by the addition of the 3xFLAG at the Pax6 start codon. This is expected since the allele is not expressed as protein until a therapy is attempted. The best control strain is, therefore, MMRRC:66967.
This strain was specifically made for development and quantification of the efficiency of gene-editing (CRISPR) for aniridia using the Sey allele, because it allows for the differential detection of protein from each allele (antibodies can not distinguish them). Ssuccessful use of this strain for this purpose is reported in PMID:32258211. Also listed are other therapeutic approaches this strain will be useful for:
Zygotes from 0.5 post-coitus plugs were obtained by the superovulation of C57BL/6J females mated with B6-Pax6Sey/+ males. Optimized CRISPR components were microinjected into one-cell zygotes and implanted into pseudopregnant CD-1 females (RRID:IMSR_CRL:022), producing 24 potential founders. PCR-based genotyping and Sanger sequencing confirmed presence of the transgene in female Founder #7, which was mated to C57BL/6J. The progeny showed stable transmission of the transgene. A male progeny with the transgene was selected as the first-pedigree mouse for further breeding and expansion of this strain. The line was backcrossed to C57BL/6J five times.
MMRRC:66967
Mirjalili Mohanna SZ, Hickmott JW, Lam SL, Chiu NY, Lengyell TC, Tam BM, Moritz OL, Simpson EM. Germline CRISPR/Cas9-Mediated Gene Editing Prevents Vision Loss in a Novel Mouse Model of Aniridia. Mol Ther Methods Clin Dev. 2020 Mar 14;17:478-490. doi: 10.1016/j.omtm.2020.03.002. eCollection 2020 Jun 12. (Medline PMID: 32258211)
Hill RE, Favor J, Hogan BL, Ton CC, Saunders GF, Hanson IM, Prosser J, Jordan T, Hastie ND, van Heyningen V. Mouse small eye results from mutations in apaired-like homeobox-containing gene. Nature. 1991 Dec 19-26;354(6354):522-5.Erratum in: Nature. 1992 Feb 20;355(6362):750. (Medline PMID: 1684639)
Hickmott JW, Gunawardane U, Jensen K, Korecki AJ, Simpson EM. Epistasisbetween Pax6(Sey) and genetic background reinforces the value of defined hybridmouse models for therapeutic trials. Gene Ther. 2018 Dec;25(8):524-537. doi:10.1038/s41434-018-0043-6. Epub 2018 Sep 26. Erratum in: Gene Ther. 2019 Jan 2;:.(Medline PMID: 30258099)
Hogan BL, Horsburgh G, Cohen J, Hetherington CM, Fisher G, Lyon MF. Small eyes(Sey): a homozygous lethal mutation on chromosome 2 which affects thedifferentiation of both lens and nasal placodes in the mouse. J Embryol ExpMorphol. 1986 Sep;97:95-110. (Medline PMID: 3794606)
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@missouri.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.