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Strain Detail Sheet

Strain Name:
STOCK Pax6em8(PAX6*R240X)Ems/1Mmjax
Stock Number:
071760-JAX
Citation ID:
RRID:MMRRC_071760-JAX
Other Names:
B6.Cg-Pax6em8(PAX6*R240X)Ems (MGI 7579271), B6.Pax6R240X [~N2 on B6]

Strain Information

Gene Details

Pax6em8(PAX6*R240X)Ems
Name: paired box 6; endonuclease-mediated mutation 8, Elizabeth M Simpson
Synonyms: Pax6em8(FLAG/PAX6*R240X)Ems, Pax6FHe9-
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

Additional Resources
IMPC
Google
Entrez
PubMed
IMSR
Gene Ontology
BioGPS
Gene Cloud
IGTC
Mouse Phenome DB
Mouse Mine
KOMP Phenotyping
Monarch
GeneCards
ClinGen
Genetic Alterations
B6.Pax6R240X knock-in (KI) mice have a humanized exon 9 sequence, containing the causative human mutation (c.718C>T (p.Arg240Ter)), replacing mouse exon 9 of the Pax6 gene. These KI mice, on a C57BL/6 background, also have a FLAG-tagged ATG in exon 4. These B6.Pax6R240X mice may be useful for studying the role of Pax6 in eye and brain development.

Genotype Determination
ES Cell Line
Not Applicable

Strain Description

Phenotype
Heterozygous mice are viable and fertile but do demonstrate severe microphthalmia, central corneal clouding, and corneal vascularization. Homozygous mice are perinatal lethal. These mice may be useful for studying the role of Pax6 in eye and brain development.
Strain Development
The B6.Pax6R240X [~N2 on B6] knock-in (KI) allele has a point mutation homologous to the human variant c.718 c>t (R240X) inserted into exon 9 of the paired box 6 (Pax6) gene on chromosome 2. An ESC line was made from a homozygous B6129F1-Pax6em3Ems mouse line (MGI:6423490; the Pax6em3Ems allele was derived via retargeting of B6.Cg-Pax6Sey/EmsMmmh to insert a triple FLAG tag at the ATG translation initiation sequence in exon 4). A megamer and two guide RNAs were electroporated into the homozygous B6129F1-Pax6em3Ems ESCs to replace mouse exon 9 with human exon 9 sequence that contains the human mutation (c.718C>T (p.Arg240Ter)). Pax6 transcript Pax6-204 (Ensembl ID ENSMUST00000111083.10) was used as reference for the exon number and the guide sequences. Correctly targeted ES cells were injected into C57BL/6J-albino blastocysts. The chimeric mice produced were identified by coat color, PCR and sequencing. The donating lab reports the resulting mice were bred to C57BL/6J mice for at least 2 generations (to reduce off-target events) prior to sending males to The Jackson Laboratory in 2024 (see SNP results). To establish our live colony, an aliquot of frozen sperm was used to fertilize C57BL/6J oocytes.


In 2024, a 48 SNP (single nucleotide polymorphism) panel analysis, with 43 markers covering all 19 chromosomes and the X chromosome, as well as 5 markers that distinguish between the C57BL/6J and C57BL/6N substrains, was performed on the males sent to The Jackson Laboratory Repository. More than 10 markers were segregating for C57BL/6 and 129S; these data are consistent with N2 mice being sent to The Jackson Laboratory Repository (and used for the frozen sperm in 2024) as reported by the donating investigator.
Suggested Control Mice
129S1.B6-Pax6/EmsMmmh; MMRRC 071299-MU

MMRRC Genetic QC

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 csmmrrc@jax.org. Older strains may not have this information.

Research Applications

  • Models for Human Disease

Strain Origin

Donor
Elizabeth M. Simpson, Ph.D., University of British Columbia.
Primary Reference
Not ready to publish

Colony and Husbandry Information

Special Considerations

N/A

Health Status Report

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.

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 csmmrrc@jax.org.

Appearance

Coat Color
Black
Eye
Black

Breeding

MMRRC Breeding System
Backcross
Generation
N2
Overall Breeding Performance
Good

Reproductive Statistics

Viability and Fertility: Female Male Comments
Homozygotes are viable: No No
Homozygotes are fertile: N/A N/A
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

Availability Level

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.

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

Conditions of Distribution

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.

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

Fees

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
071760-JAX-SPERM Cryo-preserved spermatozoa $459.00 / $459.00
Non-Profit / For-Profit		 Aliquot Approximate quantity3
071760-JAX-RESUS Litter recovered from cryo-archive $2,123.00 / $2,123.00
Non-Profit / For-Profit		 Litter Recovered litter4; additional fees for any special requests.
Cryopreserved material may be available upon request, please inquire to csmmrrc@jax.org 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.