Strain Name:

B6.Cg-Nr2e3rd7/J

Stock Number:

004643

Order this mouse

Availability:

Research Strain

In mice homozygous for Nr2e3rd7, evenly distributed white spots cover the retina and have been detected by Fundus examination as early as 16.5 days of age. Nr2e3 is a retinal transcription factor important in the developmental pathways of photoreceptor cells. Enhanced S-cone syndrome has been associated with mutations in human NR2E3 and mice homozygous for the Nr2e3rd7 mutation offer a model for this disease.

Description

Strain Information

Type Congenic; Mutant Strain; Spontaneous Mutation;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Additional information on Congenic nomenclature.
Mating SystemHomozygote x Homozygote         (Female x Male)   01-MAR-06
Specieslaboratory mouse
Background Strain C57BL/6J
GenerationNE8F2 (21-NOV-03)
Generation Definitions

Appearance
black, retinal degeneration
Related Genotype: a/a Nr2e3rd7/Nr2e3rd7

Description
Nr2e3 is a retinal transcription factor important in the developmental pathways of photoreceptor cells. In mice homozygous for Nr2e3rd7, evenly distributed white spots cover the retina and have been detected by Fundus examination as early as 16.5 days of age. Whorls and rosettes in the outer nuclear layer can first be detected at 12.5 days of age, before the eyes open. These whorls likely underlie the appearance of the white spots on the retina and the white spots and whorls are both present at one month of age then are reduced in number by 5 months, and disappear by 16 months. Electroretinographs give normal signals until 5 months of age when both rod and cone signals begin to show a progressive reduction. Attenuated retinal vessels and mottled pigment are found by 16 months of age, and the outer nuclear layer is only half normal thickness subsequent to progressive loss of cones and rods. Immunohistochemical assessment revealed that the whorls are filled with and surrounded by cone cells and there is an increase in the percentage of blue opsin expressing cone cells. Thus, NR2E3 regulates photoreceptor cell differentiation. Enhanced S-cone syndrome has been associated with mutations in human NR2E3 and mice homozygous for the Nr2e3rd7 mutation offer a model for this disease. (Chang et al., 1998; Akhmedov et al., 2000; Haider et al., 2000 and 2001.)

Development
The 77-2 line was developed to carry multiple pigment dilution mutations and several sublines resulted from this. The Nr2e3rd7 mutation was identified in the subline named "77-2C2a-special", which was not characterized for the alleles it carried but may have had a, Tyrp1b, Myo5ad, Hsp6ru, Tyrc-ch, and Hsp5mr. The coat color of "77-2C2a-special" was similar to albino. STOCK-Nr2e3rd7 (stock #002139) was frozen in 1994 via sibling mating. Nr2e3rd7 has been backcrossed from the STOCK background onto the C57BL/6J background via the backcross-intercross breeding scheme yielding the strain B6.Cg-Nr2e3rd7 (stock #004643) which was bred to homozygosity at N8 in the beginning of 2003.

Control Information

  Control
   000664 C57BL/6J
 
  Considerations for Choosing Controls

Related Strains

Strains carrying   Nr2e3rd7 allele
002139   STOCK Nr2e3rd7/J
View Strains carrying   Nr2e3rd7     (1 strain)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
Enhanced S-Cone Syndrome; ESCS
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Retinitis Pigmentosa 37; RP37   (NR2E3)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Nr2e3rd7/Nr2e3rd7

        B6.Cg-Nr2e3rd7/J
  • vision/eye phenotype
  • abnormal retinal apoptosis
    • retinal neurons have increased rates of apoptosis at 1.5 months of age   (MGI Ref ID J:148636)
  • abnormal retinal outer nuclear layer morphology
    • overall columnar architecture of the outer nuclear layer is disrupted in the portion of the retina in which there is an increase in the number of S-opsin-expressing cones   (MGI Ref ID J:107820)
    • disorganized retinal outer nuclear layer
      • many displaced nuclei are observed in the outer segment at 6 months of age compared to controls   (MGI Ref ID J:148636)
    • retinal outer nuclear layer degeneration
      • a 32.6 % reduction in photoreceptor nuclei is observed in the outer nuclear layer by 10 months of age   (MGI Ref ID J:148636)
  • abnormal retinal photoreceptor morphology
    • majority of photoreceptors appear to represent a hybrid cell type, intermediate between normal rods and cones, that have features of both rods and cones   (MGI Ref ID J:107820)
    • abnormal retinal cone cell morphology
      • mutants exhibit an increase in the number of S-opsin-expressing cones   (MGI Ref ID J:107820)
    • short photoreceptor outer segment
      • outer segment layer is shorter than wild-type at 6 weeks of age   (MGI Ref ID J:148636)
  • nervous system phenotype
  • abnormal retinal photoreceptor morphology
    • majority of photoreceptors appear to represent a hybrid cell type, intermediate between normal rods and cones, that have features of both rods and cones   (MGI Ref ID J:107820)
    • abnormal retinal cone cell morphology
      • mutants exhibit an increase in the number of S-opsin-expressing cones   (MGI Ref ID J:107820)
    • short photoreceptor outer segment
      • outer segment layer is shorter than wild-type at 6 weeks of age   (MGI Ref ID J:148636)
  • cellular phenotype
  • abnormal retinal apoptosis
    • retinal neurons have increased rates of apoptosis at 1.5 months of age   (MGI Ref ID J:148636)

The following phenotype information is associated with a similar, but not exact match to this JAX® Mice strain.

Nr2e3rd7/Nr2e3rd7

        Background Not Specified
  • vision/eye phenotype
  • abnormal cone electrophysiology
    • progressive reduction of cone signals as measures by electroretinographs   (MGI Ref ID J:62171)
    • amplitude of signals was 50% of normal by 16 months of age   (MGI Ref ID J:62171)
  • abnormal rod electrophysiology
    • progressive reduction of rod signals as measures by electroretinographs   (MGI Ref ID J:62171)
    • amplitude of signals was 50% of normal by 16 months of age   (MGI Ref ID J:62171)
  • retinal degeneration
    • evenly spaced white spots apparent by one month of age   (MGI Ref ID J:62171)
View Research Applications

Research Applications
This mouse can be used to support research in many areas including:

Nr2e3rd7 related

Sensorineural Research
Eye Defects
Retinal Degeneration

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Nr2e3rd7
Allele Name retinal degeneration 7
Allele Type Spontaneous
Common Name(s) rd7;
Gene Symbol and Name Nr2e3, nuclear receptor subfamily 2, group E, member 3
Chromosome 9
Gene Common Name(s) A930035N01Rik; ESCS; PNR; RIKEN cDNA A930035N01 gene; RNR; RP37; photoreceptor-specific nuclear receptor; rd7; retinal degeneration 7;
Molecular Note Conflicting reports exist on the nature of the molecular mutation in this gene. According to one report, this mutation is a deletion of exons 4 and 5, resulting in the absence of 380 bp from the transcript. The predicted protein expressed from this allele would lack 127 amino acids including sequences corresponding to the DNA binding domain. The deletion also introduces a frameshift and creates a premature stop codon. A second report states that an antisense insertion of L1 into exon5 prevents the excision of intron 5 and blocks the release of precursor from its site of synthesis. For details, see the associated references. [MGI Ref ID J:112030] [MGI Ref ID J:62171]

Genotyping

Genotyping Information


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Akhmedov NB; Piriev NI; Chang B; Rapoport AL; Hawes NL; Nishina PM; Nusinowitz S; Heckenlively JR; Roderick TH; Kozak CA; Danciger M; Davisson MT; Farber DB. 2000. A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse. Proc Natl Acad Sci U S A 97(10):5551-6. [PubMed: 10805811]  [MGI Ref ID J:62171]

Chen F; Figueroa DJ; Marmorstein AD; Zhang Q; Petrukhin K; Caskey CT; Austin CP. 1999. Retina-specific nuclear receptor: A potential regulator of cellular retinaldehyde-binding protein expressed in retinal pigment epithelium and Muller glial cells. Proc Natl Acad Sci U S A 96(26):15149-54. [PubMed: 10611353]  [MGI Ref ID J:59079]

Haider NB; Naggert JK; Nishina PM. 2001. Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice. Hum Mol Genet 10(16):1619-26. [PubMed: 11487564]  [MGI Ref ID J:71199]

Kobayashi M; Takezawa S; Hara K; Yu RT; Umesono Y; Agata K; Taniwaki M; Yasuda K; Umesono K. 1999. Identification of a photoreceptor cell-specific nuclear receptor. Proc Natl Acad Sci U S A 96(9):4814-9. [PubMed: 10220376]  [MGI Ref ID J:54518]

Nr2e3rd7 related

Akhmedov NB; Piriev NI; Chang B; Rapoport AL; Hawes NL; Nishina PM; Nusinowitz S; Heckenlively JR; Roderick TH; Kozak CA; Danciger M; Davisson MT; Farber DB. 2000. A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse. Proc Natl Acad Sci U S A 97(10):5551-6. [PubMed: 10805811]  [MGI Ref ID J:62171]

Chakraborty D; Conley SM; Naash MI. 2013. Overexpression of retinal degeneration slow (RDS) protein adversely affects rods in the rd7 model of enhanced S-cone syndrome. PLoS One 8(5):e63321. [PubMed: 23650562]  [MGI Ref ID J:200545]

Chang B; Hawes NL; Hurd RE; Davisson MT; Nusinowitz S; Heckenlively JR. 2002. Retinal degeneration mutants in the mouse. Vision Res 42(4):517-25. [PubMed: 11853768]  [MGI Ref ID J:75095]

Chang B; Hawes NL; Hurd RE; Wang J; Howell D; Davisson MT; Roderick TH; Nusinowitz S; Heckenlively JR. 2005. Mouse models of ocular diseases. Vis Neurosci 22(5):587-93. [PubMed: 16332269]  [MGI Ref ID J:156373]

Chang B; Heckenlively JR; Hawes NL; Davisson MT. 1998. A new mouse model of retinal dysplasia and degeneration (rd7) Invest Ophthalmol Vis Sci 39(4):S880 (Abstr.).  [MGI Ref ID J:55816]

Chen J; Nathans J. 2007. Genetic ablation of cone photoreceptors eliminates retinal folds in the retinal degeneration 7 (rd7) mouse. Invest Ophthalmol Vis Sci 48(6):2799-805. [PubMed: 17525215]  [MGI Ref ID J:123277]

Chen J; Rattner A; Nathans J. 2006. Effects of L1 retrotransposon insertion on transcript processing, localization and accumulation: lessons from the retinal degeneration 7 mouse and implications for the genomic ecology of L1 elements. Hum Mol Genet 15(13):2146-56. [PubMed: 16723373]  [MGI Ref ID J:112030]

Chen J; Rattner A; Nathans J. 2005. The rod photoreceptor-specific nuclear receptor Nr2e3 represses transcription of multiple cone-specific genes. J Neurosci 25(1):118-29. [PubMed: 15634773]  [MGI Ref ID J:97032]

Cheng H; Khan NW; Roger JE; Swaroop A. 2011. Excess cones in the retinal degeneration rd7 mouse, caused by the loss of function of orphan nuclear receptor Nr2e3, originate from early-born photoreceptor precursors. Hum Mol Genet 20(21):4102-15. [PubMed: 21813656]  [MGI Ref ID J:176686]

Corbo JC; Cepko CL. 2005. A Hybrid Photoreceptor Expressing Both Rod and Cone Genes in a Mouse Model of Enhanced S-Cone Syndrome. PLoS Genet 1(2):e11. [PubMed: 16110338]  [MGI Ref ID J:107820]

Cruz NM; Yuan Y; Leehy BD; Baid R; Kompella U; DeAngelis MM; Escher P; Haider NB. 2014. Modifier genes as therapeutics: the nuclear hormone receptor Rev Erb alpha (Nr1d1) rescues Nr2e3 associated retinal disease. PLoS One 9(1):e87942. [PubMed: 24498227]  [MGI Ref ID J:212853]

Haider NB; Mollema N; Gaule M; Yuan Y; Sachs AJ; Nystuen AM; Naggert JK; Nishina PM. 2009. Nr2e3-directed transcriptional regulation of genes involved in photoreceptor development and cell-type specific phototransduction. Exp Eye Res 89(3):365-72. [PubMed: 19379737]  [MGI Ref ID J:151003]

Haider NB; Naggert JK; Nishina PM. 2001. Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice. Hum Mol Genet 10(16):1619-26. [PubMed: 11487564]  [MGI Ref ID J:71199]

Hawes NL; Smith RS; Chang B; Davisson M; Heckenlively JR; John SW. 1999. Mouse fundus photography and angiography: a catalogue of normal and mutant phenotypes. Mol Vis 5:22. [PubMed: 10493779]  [MGI Ref ID J:59481]

Nystuen AM; Sachs AJ; Yuan Y; Heuermann L; Haider NB. 2008. A novel mutation in Prph2, a gene regulated by Nr2e3, causes retinal degeneration and outer-segment defects similar to Nr2e3 ( rd7/rd7 ) retinas. Mamm Genome 19(9):623-33. [PubMed: 18763016]  [MGI Ref ID J:148636]

Oh EC; Cheng H; Hao H; Jia L; Khan NW; Swaroop A. 2008. Rod differentiation factor NRL activates the expression of nuclear receptor NR2E3 to suppress the development of cone photoreceptors. Brain Res 1236:16-29. [PubMed: 18294621]  [MGI Ref ID J:145077]

Onishi A; Peng GH; Hsu C; Alexis U; Chen S; Blackshaw S. 2009. Pias3-dependent SUMOylation directs rod photoreceptor development. Neuron 61(2):234-46. [PubMed: 19186166]  [MGI Ref ID J:147163]

Peng GH; Chen S. 2011. Active opsin loci adopt intrachromosomal loops that depend on the photoreceptor transcription factor network. Proc Natl Acad Sci U S A 108(43):17821-6. [PubMed: 22006320]  [MGI Ref ID J:177494]

Ueno S; Kondo M; Miyata K; Hirai T; Miyata T; Usukura J; Nishizawa Y; Miyake Y. 2005. Physiological function of S-cone system is not enhanced in rd7 mice. Exp Eye Res 81(6):751-8. [PubMed: 16005871]  [MGI Ref ID J:104250]

Wang NK; Lai CC; Liu CH; Yeh LK; Chou CL; Kong J; Nagasaki T; Tsang SH; Chien CL. 2013. Origin of fundus hyperautofluorescent spots and their role in retinal degeneration in a mouse model of Goldmann-Favre syndrome. Dis Model Mech 6(5):1113-22. [PubMed: 23828046]  [MGI Ref ID J:201675]

Webber AL; Hodor P; Thut CJ; Vogt TF; Zhang T; Holder DJ; Petrukhin K. 2008. Dual role of Nr2e3 in photoreceptor development and maintenance. Exp Eye Res 87(1):35-48. [PubMed: 18547563]  [MGI Ref ID J:138242]

Won J; Shi LY; Hicks W; Wang J; Hurd R; Naggert JK; Chang B; Nishina PM. 2011. Mouse model resources for vision research. J Ophthalmol 2011:391384. [PubMed: 21052544]  [MGI Ref ID J:166679]

Yanagi Y; Takezawa S; Kato S. 2002. Distinct functions of photoreceptor cell-specific nuclear receptor, thyroid hormone receptor beta2 and CRX in one photoreceptor development. Invest Ophthalmol Vis Sci 43(11):3489-94. [PubMed: 12407160]  [MGI Ref ID J:108438]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           A1

Colony Maintenance

Mating SystemHomozygote x Homozygote         (Female x Male)   01-MAR-06

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Live Mice

Price per mouse (US dollars $)GenderGenotypes Provided
Individual Mouse $126.95Female or MaleHomozygous for Nr2e3rd7  
Price per Pair (US dollars $)Pair Genotype
$253.90Homozygous for Nr2e3rd7 x Homozygous for Nr2e3rd7  

Standard Supply

Research Strain. Availability determined by The Jackson Laboratory scientist holding the strain.

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Live Mice

Price per mouse (US dollars $)GenderGenotypes Provided
Individual Mouse $165.10Female or MaleHomozygous for Nr2e3rd7  
Price per Pair (US dollars $)Pair Genotype
$330.10Homozygous for Nr2e3rd7 x Homozygous for Nr2e3rd7  

Standard Supply

Research Strain. Availability determined by The Jackson Laboratory scientist holding the strain.

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Research Strain. Availability determined by The Jackson Laboratory scientist holding the strain.

General Supply Notes

Control Information

  Control
   000664 C57BL/6J
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.


See Terms of Use tab for General Terms and Conditions


The Jackson Laboratory's Genotype Promise

The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.
Ordering Information
JAX® Mice
Surgical and Preconditioning Services
JAX® Services
Customer Services and Support
Tel: 1-800-422-6423 or 1-207-288-5845
Fax: 1-207-288-6150
Technical Support Email Form

Terms of Use

Terms of Use


General Terms and Conditions


Contact information

General inquiries regarding Terms of Use

Contracts Administration

phone:207-288-6470

JAX® Mice, Products & Services Conditions of Use

"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "RECIPIENT" means each recipient of MICE, PRODUCTS, or services provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than the internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON's prior written authorization.

No Warranty

MICE, PRODUCTS AND SERVICES ARE PROVIDED “AS IS”. JACKSON EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of mice, products or services, JACKSON will, at its option, provide credit or replacement for the mice or product received or the services provided.

No Liability

In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS or services from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.

MICE and PRODUCTS are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or services. In addition, special terms and conditions of sale of certain MICE, PRODUCTS or services may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and services by JACKSON, and by its licensees and distributors.

Acceptance of delivery of MICE, PRODUCTS or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or services by JACKSON.


(6.8)