Overview

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. 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 Nr2e3^rd7 mutation offer a model for this disease.

Genetic overview

Genetic Background	Generation
000664 C57BL/6J	N8F22 (2020-04-23 00:00:00)

Nr2e3^rd7

Allele Type	Gene Symbol	Gene Name
Spontaneous (Null/Knockout)	Nr2e3	nuclear receptor subfamily 2, group E, member 3

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Research Applications

Sensorineural Research

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Base Price

Starting at:

$136.70 Domestic price for female

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Details

Detailed 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 #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 #004643) which was bred to homozygosity at N8 in the beginning of 2003.

Control Suggestions

000664 C57BL/6J

Additional Information

Considerations for Choosing Controls

Genetics

Nr2e3^rd7

Allele Symbol: Nr2e3^rd7

Allele Name	retinal degeneration 7
Allele Type	Spontaneous (Null/Knockout)
Allele Synonym(s)	rd7
Gene Symbol and Name	Nr2e3, nuclear receptor subfamily 2, group E, member 3
Gene Synonym(s)
Strain of Origin	Not Specified
Chromosome	9
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.

Disease/Phenotype

Disease Terms

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

Research Areas By Phenotype

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

Genotype: Nr2e3^rd7 related

Sensorineural Research
- Eye Defects
- Retinal Degeneration

Mammalian Phenotype Terms by Genotype

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

Genotype: Nr2e3^rd7/Nr2e3^rd7
Not Specified

vision/eye phenotype

abnormal cone electrophysiology
- progressive reduction of cone signals as measures by electroretinographs
- amplitude of signals was 50% of normal by 16 months of age

abnormal rod electrophysiology
- progressive reduction of rod signals as measures by electroretinographs
- amplitude of signals was 50% of normal by 16 months of age

retinal degeneration
- evenly spaced white spots apparent by one month of age

The following phenotype relates to a compound genotype created using this strain

Genotype: Nr2e3^rd7/Nr2e3^rd7
B6.Cg-Nr2e3/J

cellular phenotype

increased retinal apoptosis
- retinal neurons have increased rates of apoptosis at 1.5 months of age

nervous system phenotype

abnormal retinal cone cell morphology
- mutants exhibit an increase in the number of S-opsin-expressing cones

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

short photoreceptor outer segment
- outer segment layer is shorter than wild-type at 6 weeks of age

vision/eye phenotype

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

retinal outer nuclear layer degeneration
- a 32.6 % reduction in photoreceptor nuclei is observed in the outer nuclear layer by 10 months of age

disorganized retinal outer nuclear layer
- many displaced nuclei are observed in the outer segment at 6 months of age compared to controls

short photoreceptor outer segment
- outer segment layer is shorter than wild-type at 6 weeks of age

increased retinal apoptosis
- retinal neurons have increased rates of apoptosis at 1.5 months of age

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

abnormal retinal cone cell morphology
- mutants exhibit an increase in the number of S-opsin-expressing cones

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):5551-6PubMed: 10805811 MGI: 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):15149-54PubMed: 10611353 MGI: 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):1619-26PubMed: 11487564 MGI: 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):4814-9PubMed: 10220376 MGI: J:54518

Additional - Nr2e3^rd7 related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Separated PCR:Nr2e3 Alternate1
- Genotyping resources and troubleshooting
Mating System
- Homozygote x Homozygote
Appearance
- black, retinal degeneration
  Related Genotype: a/a Nr2e3^rd7/Nr2e3^rd7
Citation
When using the B6.Cg-Nr2e3^rd7/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #004643 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

MGL277 (M277) (Low)

Pricing & Availability

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Cryorecovery - Pricing

Service/Product	Description	Price
> >	Homozygous for Nr2e3<rd7>, 1 pair minimum

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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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

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Email: TechTran@jax.org

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Nr2e3rd7

Allele Symbol: Nr2e3rd7

Disease Terms

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).

Research Areas By Phenotype

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

Genotype: Nr2e3rd7 related

Mammalian Phenotype Terms by Genotype

Genotype: Nr2e3rd7/Nr2e3rd7Not Specified

vision/eye phenotype

Genotype: Nr2e3rd7/Nr2e3rd7B6.Cg-Nr2e3/J

cellular phenotype

nervous system phenotype

vision/eye phenotype

References

Additional References

Additional - Nr2e3rd7 related

Genotyping Protocols

Mating System

Appearance

Citation

Animal Health Reports

Live Mouse

Cryorecovery - Pricing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

Nr2e3^rd7

Allele Symbol: Nr2e3^rd7

Genotype: Nr2e3^rd7 related

Genotype: Nr2e3^rd7/Nr2e3^rd7
Not Specified

Genotype: Nr2e3^rd7/Nr2e3^rd7
B6.Cg-Nr2e3/J

Additional - Nr2e3^rd7 related