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Strain Name:
129S-Rpe65tm1Lrcb/Mmjax
Stock Number:
072093-JAX
Citation ID:
RRID:MMRRC_072093-JAX
Other Names:
R91W

Strain Information

Rpe65tm1Lrcb
Name: retinal pigment epithelium 65; targeted mutation 1, Christian Grimm
Synonyms: Rpe65R91W, R91W
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 3
Alteration at locus: Knock-In
Rpe65
Name: retinal pigment epithelium 65
Synonyms: A930029L06Rik, Mord1, rd12
Type: Gene
Species: Mouse
Chromosome: 3
Alteration at locus: Knock-In
NCBI: 19892
Homologene: 20108
Genetic Alterations
Rpe65R91W mice express a clinical missense mutation (R91W) and may be useful for studying retinal diseases and potential therapeutics.

ES Cell Line
TC1/TC-1 (129S6/SvEvTac)
Phenotype

Rpe65 encodes a protein expressed specifically in the retinal pigment epithelium (RPE), a monolayer of cells that closely interacts with the photoreceptors of the retina and plays essential roles in the maintenance of visual function. These Rpe65R91W mice express an arginine to tryptophan missense mutation (R91W) in the Rep65 gene. This mutation results in reduced levels of RPE65 ultimately leading to early-onset retinal dystrophy. Homozygous mice are viable and fertile, but do demonstrate progressive visual impairment starting at 4 weeks of age. Heterozygous mice do not have any visual impairments. Rpe65R91W mice may be useful for studying inherited retinal dystrophies.

Conditional phenotype: No

MeSH Terms
  • Age of Onset
  • Animals
  • Carrier Proteins/genetics
  • Carrier Proteins/metabolism
  • Eye Proteins/genetics
  • Eye Proteins/metabolism
  • Humans
  • Mice
  • Mutation, Missense
  • Photoreceptor Cells/metabolism
  • Point Mutation
  • Retinal Diseases/epidemiology
  • Retinal Diseases/genetics
  • Retinal Diseases/metabolism
  • Retinaldehyde/metabolism
  • cis-trans-Isomerases
Strain GQC Summary
Gene Specific Genotyping:

To request gene-specific and other genotyping services for a strain, please contact the distribution MMRRC Center for more information.

Background Genetic Quality:

The MMRRC has developed a Genetic Quality Control pipeline using the MiniMUGA array to provide additional information to identify and validate genetic backgrounds of MMRRC strains. For more information on whether genetic background data is available, please contact MMRRC_GeneticQC@med.unc.edu. Note: that MiniMUGA genetic background data is not available on all strains, but can be ordered if desired.

Suggested Control Mice
Littermates of all relevant genotypes.
  • Cell Biology
  • Models for Human Disease
  • Neurobiology
Donor
Christian Grimm, Ph.D., University of Zurich..
Primary Reference

Samardzija M, von Lintig J, Tanimoto N, Oberhauser V, Thiersch M, Remé CE, Seeliger M, Grimm C, Wenzel A. R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal. Hum Mol Genet. 2008 Jan 15;17(2):281-92. doi: 10.1093/hmg/ddm304. Epub 2007 Oct 12. (Medline PMID: 17933883)

Strain Development

The Rpe65R91W targeting construct was designed to introduce two point mutations (CGA > TGG) into the retinal pigment epithelium 65 (Rpe65) gene, resulting an arginine to tryptophan amino acid substitution. The targeting vector also contained a loxP-flanked neomycin cassette and a diphtheria toxin (DT) cassette as selection markers. The construct was electroporated into 129S6/SvEvTac-derived TC1 embryonic stem (ES) cells and correctly targeted ES cells were injected into recipient blastocysts. The resulting chimeric mice were mated to 129S6 mice for germline transmission. Rpe65R91W mice were then crossed to a germline Cre-deleter mouse line (JAX Stock No. 003960) to remove the floxed neomycin cassette. The Rpe65R91W progeny were maintained on a 129S6 background by the donating laboratory. Upon arrival, sperm was cryopreserved. To establish a live colony, an aliquot of frozen sperm was used to fertilize 129S1/SvImJ oocytes (Stock No. 002448).


Disclaimer: If MMRRC Strain Genetic Quality Control (GQC; based on MiniMUGA genotyping and analysis) has been completed for this strain, the information might differ from the genetic background information provided by the submitter. MiniMUGA genetic analysis is done on a strain’s tissue samples taken when archived by or ordered from the assigned MMRRC Center.

Colony and Husbandry Information

For more information about this colony's health status contact csmmrrc@jax.org
Coat Color
Agouti
Eye
Black
MMRRC Breeding System
Random intra-strain mating
Generation
More than 10
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: 10 to 12 months 10 to 12 months
Average litter size
7 to 9
Recommended wean age
3 Weeks
Average Pups Weaned
7 to 9

Order Information

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.

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.

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
072093-JAX-HOM-F
072093-JAX-HOM-M
072093-JAX-HET-F
072093-JAX-HET-M
072093-JAX-WT-F
072093-JAX-WT-M
Homozygous Female
Homozygous Male
Heterozygous / Hemizygous Female
Heterozygous / Hemizygous Male
Wild Type Female
Wild Type Male
$229.00 / Non-Profit Per Mouse The csmmrrc@jax.org may assess additional fees for any special requests (e.g., specific age or weight of mice, etc.).
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.