Overview

This mutant provides a model for retinitis pigmentosa 20 and Leber congenital amaurosis 2, is useful in the study of the visual cycle, and has been used successfully in gene therapy experiments.

Genetic overview

Genetic Background	Generation
	F?+30 (2020-04-23 00:00:00)

Rpe65^rd12

Allele Type	Gene Symbol	Gene Name
Spontaneous	Rpe65	retinal pigment epithelium 65

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Research Applications

Sensorineural Research
Research Tools
Mouse/Human Gene Homologs

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Base Price

Starting at:

$154.69 Domestic price for female

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Details

Detailed Description

This mutant provides a model for retinitis pigmentosa 20 and Leber congenital amaurosis. There is slow retinal degeneration as assessed by histology, but rod ERG readings show profoundly diminished dark adapted responses by 1 month of age The light adapted ERG responses at 1 month are delayed and diminished amplitude occurs with age. At 3 months of age the fundus examination appears normal and at 5 months of age small, punctate, white spots appear beneath retinal vessels. At 15 months of age the fundus has a mildly pigmented granular and mottled appearance. Histology of the retina begins to show occasional voids in the outer segments of the photoreceptor cells at approximately 6 weeks of age and at 3 months of age the outer segments have more voids and are more disorganized but the outer segments and the outer nuclear layer remain predominantly intact and relatively normal. However, by 7 months the outer nuclear layer has 6 to 8 layers of outer nuclear layer remaining in the retina and the outer segments are noticeably shorter than normal, and at 27 months only 3 to 4 layers of the outer nuclear layer remain, the outer segments is significantly shorter than normal, and the retinal pigment epithelium is atrophied and hypopigmented. The retinal pigment epithelium shows small lipid-like droplets detectable by electron microscopy at 3 weeks of age and increasing in size and frequency at 3 months of age. Consistent with the disrupted function of RPE65 to convert all-trans retinal to 11-cis retinal, HPLC fails to detect 11-cis-retinal in the retinas of homozygotes, rhodopsin absorbance is not detectable from 2 weeks to 5 months of age, there is reduced opsin levels in retinas as early as 8 days of age, and a progressive increase in retinyl esters after 3 weeks of age.

Development

The recessive rd12 mutation arose spontaneously in a male mouse of strain B6.A-H2-T18^a/BoyEg (Stock No. 001166). This male was bred to a C57BL/6J female and their F1 female offspring were bred back to this male to identify homozygotes. rd12 was then further backcrossed onto C57BL/6J to generate this strain.

Control Suggestions

Approximate Controls

000664 C57BL/6J

Additional Information

Considerations for Choosing Controls

Genetics

Rpe65^rd12

Allele Symbol: Rpe65^rd12

Allele Name	retinal degeneration 12
Allele Type	Spontaneous
Allele Synonym(s)
Gene Symbol and Name	Rpe65, retinal pigment epithelium 65
Gene Synonym(s)
Strain of Origin	B6.A-H2-T18^a/BoyEgJ
Chromosome	3
Molecular Note	This spontaneous mutation was discovered during a routine strain screen at The Jackson Laboratory. Its mapping location suggested it might be an allele of Rpe65, and a point mutation was identified in the Rpe65 gene. The mutation is a base substitution C-to-T at coding nucleotide 130 resulting in a stop codon in stead of arginine at position 44 (p.R44*). Immunostaining revealed that mutant eyes do not express RPE65 protein, and subretinal injection of the AAV5-CBA viral vector expressing human RPE65 significantly rescued the visual phenotype for at least 7 months following treatment.

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).

Leber congenital amaurosis 2

Research Areas By Phenotype

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

Genotype: Rpe65^rd12 related

Sensorineural Research
- Retinal Degeneration
Research Tools
- Sensorineural Research
  - retinal degeneration
Mouse/Human Gene Homologs
- Retinitis pigmentosa 12; Leber congenital amaurosis (CLA)

Mammalian Phenotype Terms by Genotype

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

Genotype: Rpe65^rd12/Rpe65^rd12
B6(A)-Rpe65/J

nervous system phenotype

abnormal retinal rod cell outer segment morphology
- at 3 months of age, the rod outer segments are of normal thickness; by 27 months the rod outer segments are almost absent
- light microscopic examination of eyes of 6 week-old mutant mice reveals occasional small voids in the rod outer segments, which become progressively larger and more numerous

vision/eye phenotype

abnormal cone electrophysiology
- the light-adapted ERG response is delayed and exhibits progressive diminution of amplitude with the age of the mice

abnormal eye electrophysiology
- electroretinographic (ERG) analysis reveals progressive loss of retinal function
- the ERG b-wave amplitude of mutant mice decreases as the mice age

abnormal retinal rod cell outer segment morphology
- at 3 months of age, the rod outer segments are of normal thickness; by 27 months the rod outer segments are almost absent
- light microscopic examination of eyes of 6 week-old mutant mice reveals occasional small voids in the rod outer segments, which become progressively larger and more numerous

abnormal rod electrophysiology
- by three weeks of age, homozygous mice exhibit a poor dark-adapted (rod) ERG response

retinal degeneration
- at 3 months of age, both the rod outer segments and the outer nuclear layer are of normal thickness; by 7 months, the outer nuclear layer is reduced by 30%, and by 27 months the rod outer segments are almost absent and the outer nuclear layer is only one-third normal thickness
- ophthalmoscopic examination of the fundus reveals small white spots evenly scattered across the mutant retina by 5 months of age; by 15 months, the fundus appears granular and mottled
- third normal thickness

thin retinal outer nuclear layer
- at 3 months of age, the outer nuclear layer is of normal thickness; by 7 months, the outer nuclear layer is reduced by 30%, and by 27 months the outer nuclear layer is only one-third normal thickness

References

Additional - Rpe65^rd12 related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- End Point Analysis:Rpe65
- Sanger sequencing:Rpe65
- Genotyping resources and troubleshooting
Appearance
- black, retinal degeneraton
  Related Genotype: a/a Rpe65^rd12/Rpe65^rd12
Citation
When using the B6(A)-Rpe65^rd12/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #005379 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

MGL277 (Low)

Pricing & Availability

Availability Varies

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	Homozygous for Rpe65<rd12>, 1 pair minimum

Related Products and Services

Frozen Mouse Embryo	B6(A)-Rpe65<rd12>/J Frozen Embryos	$2595.00
Frozen Mouse Embryo	B6(A)-Rpe65<rd12>/J Frozen Embryos	$2595.00
Frozen Mouse Embryo	B6(A)-Rpe65<rd12>/J Frozen Embryos	$3373.50
Frozen Mouse Embryo	B6(A)-Rpe65<rd12>/J Frozen Embryos	$3373.50

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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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Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Approximate Controls

Additional Information

Rpe65rd12

Allele Symbol: Rpe65rd12

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: Rpe65rd12 related

Mammalian Phenotype Terms by Genotype

Genotype: Rpe65rd12/Rpe65rd12B6(A)-Rpe65/J

nervous system phenotype

vision/eye phenotype

References

Additional - Rpe65rd12 related

Genotyping Protocols

Appearance

Citation

Animal Health Reports

Live Mouse

Cryorecovery - Pricing

Related Products and Services

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Rpe65^rd12

Allele Symbol: Rpe65^rd12

Genotype: Rpe65^rd12 related

Genotype: Rpe65^rd12/Rpe65^rd12
B6(A)-Rpe65/J

Additional - Rpe65^rd12 related