Description

Strain Information

Type Mutant Stock; Additional information on Genetically Engineered Mutant Mice. Species laboratory mouse

Description
Nr2e3 is a retinal transcription factor important in the developmental pathways of photoreceptor cells. In mice homozygous for Nr2e3^rd7, 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 Nr2e3^rd7 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 Nr2e3^rd7 mutation was identified in the subline named "77-2C2a-special", which was not characterized for the alleles it carried but may have had a, Tyrp1^b, Myo5a^d, Hsp6^ru, Tyr^c-ch, and Hsp5^mr. The coat color of "77-2C2a-special" was similar to albino. STOCK Nr2e3^rd7 (Stock No. 002139) was frozen in 1994 via sibling mating. Nr2e3^rd7 has been backcrossed from the STOCK background onto the C57BL/6J background via the backcross-intercross breeding scheme yielding the strain B6.Cg-Nr2e3^rd7 (Stock No. 004643) which was bred to homozygosity at N8 in the beginning of 2003.

Control Information

	Control
	000664 C57BL/6J	(approximate)
Considerations for Choosing Controls

Related Strains

Strains carrying   Nr2e3^rd7 allele

004643

B6.Cg-Nr2e3rd7/J

View Strains carrying   Nr2e3^rd7     (1 strain)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms

Enhanced S-Cone Syndrome; ESCS - Models with phenotypic similarity to human disease where etiologies involve orthologs.1

1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

The following phenotype information may relate to a genetic background differing from this JAX^® Mice strain.

Nr2e3^rd7/Nr2e3^rd7

        Background Not Specified

• vision/eye phenotype
• abnormal cone electrophysiology (MGI Ref ID J:62171)
  • progressive reduction of cone signals as measures by electroretinographs
  • amplitude of signals was 50% of normal by 16 months of age
• abnormal rod electrophysiology (MGI Ref ID J:62171)
  • progressive reduction of rod signals as measures by electroretinographs
  • amplitude of signals was 50% of normal by 16 months of age
• retinal degeneration (MGI Ref ID J:62171)
  • evenly spaced white spots apparent by one month of age

Nr2e3^rd7/Nr2e3^rd7

        B6.Cg-Nr2e3^rd7/J

• vision/eye phenotype
• abnormal retinal outer nuclear layer morphology (MGI Ref ID J:107820)
  • 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
• abnormal retinal photoreceptor morphology (MGI Ref ID J:107820)
  • majority of photoreceptors appear to represent a hybrid cell type, intermediate between normal rods and cones, that have features of both rods and cones
• abnormal retinal cone cell morphology (MGI Ref ID J:107820)
  • mutants exhibit an increase in the number of S-opsin-expressing cones
• nervous system phenotype
• abnormal retinal photoreceptor morphology (MGI Ref ID J:107820)
  • majority of photoreceptors appear to represent a hybrid cell type, intermediate between normal rods and cones, that have features of both rods and cones
• abnormal retinal cone cell morphology (MGI Ref ID J:107820)
  • mutants exhibit an increase in the number of S-opsin-expressing cones

View Research Applications

Research Applications

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

Nr2e3^rd7 related

Sensorineural Research
Eye Defects
Retinal Degeneration

Genes & Alleles

Gene & Allele Information

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; MGC49976; 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

This strain will not have a genotyping protocol or one is not currently available.

Helpful Links

Optimizing PCR Protocols

References

References

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]

Nr2e3^rd7 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]

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; 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]

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]

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]

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]

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]

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

Currently there no information available for this strain. This may be due to the supply level of this strain.

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Supply Details

Standard Supply

Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.

Supply Notes

Cryorecovery - Standard. The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery. Cryorecovery to establish a Dedicated Supply for greater quantities of mice. One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 or 1-207-288-5845.

Control Information

	Control
	000664 C57BL/6J	(approximate)
Considerations for Choosing Controls
USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains.
International - Control Pricing Information for Genetically Engineered Mutant Strains.

General Terms and Conditions

See Terms of Use

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.

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Ordering and Purchasing Information

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Terms of Use

Terms of Use

General Terms and Conditions

Contact information

General inquiries

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phone:	207-288-6470
fax:	207-288-6655

JAX^® Mice & Services Conditions of Use

“Each recipient institution, including its employees and other researchers under its control (RECIPIENT), of mice or services using mice from The Jackson Laboratory (TJL) agrees that such mice, descendants of those mice derived by inbreeding or crossbreeding, including unmodified derivatives of those mice or their descendants (“MICE”) shall not be: (i) used for any purpose other than the internal research of the RECIPIENT, (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 with respect to MICE. Acceptance of MICE from TJL shall be deemed agreement by RECIPIENT to these conditions, and departure from these conditions requires The Jackson Laboratory’s prior written authorization.”

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