Strain Name:
B6J.Cg-Pax6Sey/Mmmh
Stock Number:
050623-MU
Citation ID:
RRID:MMRRC_050623-MU
Other Names:
C57BL/6J-Pax6^Sey

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: Spontaneous Mutation
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: Spontaneous Mutation
NCBI: 18508
HGNC: HGNC:8620
Homologene: 1212
Genetic Alterations

HGVS (based on experimental data in PMID:1684639:

  • Genbank RefSeq - mRNA: NM_001244198.2
  • Genbank RefSeq, protein: NP_001231127.1
  • Variant, nucleic acid level: c.622G>T
  • Variant, amino acid level, predicted: p.Gly208*
Genotype Determination
ES Cell Line
N/A
Phenotype
The small eye (Sey) mouse produces a phenotype that mirrors human aniridia including iris hypoplasia, lens abnormalities, corneal keratopathy, and pannus. Mice homozygous for the Sey mutation die around the day of birth.
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 []
MeSH Terms
  • Alleles
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Blotting, Southern
  • Chromosome Deletion
  • Cloning, Molecular
  • Crosses, Genetic
  • Embryo, Mammalian
  • Embryonic and Fetal Development
  • Eye/embryology
  • Eye Abnormalities/genetics
  • Female
  • Genes, Homeobox
  • Heterozygote
  • Male
  • Mice
  • Mice, Inbred C57BL/genetics
  • Mice, Mutant Strains/genetics
  • Molecular Sequence Data
  • Mutation
  • Oligodeoxyribonucleotides
  • Phenotype
  • Polymerase Chain Reaction/methods
  • Restriction Mapping
Strain Development
Spontaneous Mutation
Suggested Control Mice
wild-type littermate
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

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 Sep 26. doi:10.1038/s41434-018-0043-6. [Epub ahead of print] (Medline PMID: 30258099)

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)

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
Black
Eye
Black
Other
The allele was passed on to Dr. Simpson from Dr. Daniel Goldowitz (University of British Columbia) who obtained it from Drs. Rob Grainger and Marilyn Fisher (University of Virginia). The strain's original description was published by R.C. Roberts (Roberts, R. (1967). Small eyes—a new dominant eye mutant in the mouse. Genetical Research, 9(1), 121-122. doi:10.1017/S0016672300010387). This allele is available at Riken on a stock background and from EMMA/Harwell on a teratoma-causing 129 background and complexed with a random insertion transgenic. The two strains available at the MMRRC (50623 and 50624) add to the strains' availability.
MMRRC Breeding System
Backcross
Generation

N10+ (129S1/SvImJ - JAX Strain #000664)

Overall Breeding Performance
Good
Viability and Fertility: Female Male Comments
Homozygotes are viable: No No
Homozygotes are fertile: No No
Heterozygotes are fertile: Yes Yes
Age Reproductive Decline: 8 to 12 months 8 to 12 months
Average litter size
4-6
Recommended wean age
3 Weeks
Average Pups Weaned
4-6

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.

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
050623-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.

Some MMRRC strains were submitted by the donor as cryopreserved germplasm, and because these strains were not cryopreserved by the MMRRC, we have not assessed the quality, nor genotype, of this material. Our expertise in reviving mice from various qualities of frozen sperm and embryos, using methods like IVF and ICSI, gives us confidence in successful recoveries in most cases. However, due to the uncertain quality of these samples, we'll limit revival attempts to two per order. Additional attempts are available for a fee, on top of standard charges, if requested. It's important to note that some strains may lack the expected mutation, so we can't assure successful order fulfillment until we attempt to revive the strain.

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.