Strain Name:
129S1.B6J-Pax6em7(PAX6)Ems/Mmmh
Stock Number:
071299-MU
Citation ID:
RRID:MMRRC_071299-MU
Other Names:
129S1.B6- Pax6em7(PAX6)Ems (MGI:7330077)

Strain Information

Pax6Sey
Name: paired box 6; small eye
Synonyms: Pax6SeyEd, Pax6-, sey, P5
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 2
Alteration at locus: CRISPR
Pax6
Name: paired box 6
Synonyms: Pax-6, Dey, Dickie's small eye, 1500038E17Rik, AEY11, Gsfaey11
Type: Gene
Species: Mouse
Chromosome: 2
Alteration at locus: CRISPR
NCBI: 18508
HGNC: HGNC:8620
Homologene: 1212
Pax6em7(PAX6)Ems
Name:
Type: Allele
Species: Multi-species
Chromosome:
Alteration at locus: Spontaneous Mutation
Genetic Alterations
This strain contains a humanized exon 9 in its Pax6 gene.

Two guide RNAs were designed to introduce two double-stranded breaks in Pax6. CRISPR RNAs and tracer RNAs were synthesized as single strands with chemical modifications (20-O-methyl and phosphorothioate bonds at the first two 50- and 30-terminalRNA residues).

A 512 bp single-stranded oligodeoxynucleotide (ssODN) template containing the patient variant (oEMS6346) was synthesized to confer the humanization of Pax6 exon 9, and an 84 bp ssODN (oEMS6451) was synthesized to confer correction of the variant in the resulting homozygous humanized variant cell line

Phenotype

Patients with aniridia often have mutations in exon 9 of the PAX6 gene. These mice exhibit no outward abnormalities, but do contain a humanized exon 9. They may serve as a platform for preclinicalstudies involving aniridia.

Mammalian Phenotype Terms
Allelic Composition: (Genetic Background: )

  • respiratory system
    • absent nasal placodes []
  • taste/olfaction
    • absent nasal placodes []
  • vision/eye
    • absent lens vesicle []
    • coloboma []
  • craniofacial
    • absent nasal placodes []
Strain Development
This mouse strain was derived by means of cytoplasmic microinjection into C57BL/6J mice (JAX 000664) using a dual RNA guide strategy (cgEMS9, cgEMS18) and ssODN (oEMS6347). Founder animals were then backcrossed onto C57BL/6J (JAX 000664) (see MMRRC ID: 71298) and then subsequently bred onto the 129 background (JAX 002448).
Suggested Control Mice
129S1/SvImJ (JAX strain code: 002448)
MMRRC Genetic QC Summary
The MMRRC Centers have developed a genetic QC pipeline using MiniMUGA array genotyping to provide additional information on strain backgrounds for MMRRC congenic and inbred strains. For more information on when data may be available, or to request genotyping for a strain of interest, please contact mmrrc@missouri.edu. Older strains may not have this information.
  • Models for Human Disease
Donor
Elizabeth M. Simpson, Ph.D., University of British Columbia.
Primary Reference

Adair BA, Korecki AJ, Djaksigulova D, Wagner PK, Chiu NY, Lam SL, Lengyell TC, Leavitt BR, Simpson EM. ABE8e Corrects Pax6-Aniridic Variant in Humanized Mouse ESCs and via LNPs in Ex Vivo Cortical Neurons. Ophthalmol Ther. 2023 Aug;12(4):2049-2068. doi: 10.1007/s40123-023-00729-6. Epub 2023 May 20. (Medline PMID: 37210469)

Colony and Husbandry Information

Colony Surveillance Program and Current Health Reports

Mice recovered from a cryo-archive will have health surveillance performed on recipient females. Health reports will be provided prior to shipment. If you require additional health status information, please email mmrrc@missouri.edu.
Coat Color
Agouti
Eye
Black
MMRRC Breeding System
Backcross
Generation
N11
Overall Breeding Performance
Good
Viability and Fertility: Female Male Comments
Homozygotes are viable: Yes Yes
Homozygotes are fertile: Yes Yes
Heterozygotes are fertile: Yes Yes
Age Reproductive Decline: 7 to 9 months 10 to 12 months
Average litter size
4 to 6
Recommended wean age
3 Weeks
Average Pups Weaned
4 to 6

Order Request Information

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.

A Commercial License Agreement from the Donor is required for for-profit entities to use this strain. For more information, please contact Jennifer Lynett.

A Commercial License Agreement from the Donor is required for for-profit entities to use this strain. For more information, please contact Jennifer Lynett

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.

Click button to Request this one strain. (Use the MMRRC Catalog Search to request more than one strain.)
MMRRC Item # Description Distribution Fee / Unit (US $)
*Shipping & Handling not included*
Units Notes
071299-MU-SPERM Cryo-preserved spermatozoa $437.00 / $817.00
Non-Profit / For-Profit
Aliquot Approximate quantity3
071299-MU-RESUS Litter recovered from cryo-archive $2,624.00 / $5,340.00
Non-Profit / For-Profit
Litter Recovered litter4; additional fees for any special requests.
Cryopreserved material may be available upon request, please inquire to mmrrc@missouri.edu for more information.

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.

To request material from the MMRRC: Please fill out our on-line request form (accessible from the catalog search results page, or click the Request this Strain button in the fees section). If you have questions or need assistance completing this form, you may call Customer Service at (800) 910-2291 (in USA or Canada) or (530) 757-5710 (international calls). Before you call, please have with you: the MMRRC item number, quantity needed, Bill-to and Ship-to contact information.