Description

Strain Information

Former Names B6(A)-rd12/J    (Changed: 14-JAN-05 ) Type Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered Mutant Mice. Species laboratory mouse

Appearance
black, retinal degeneraton
Related Genotype: a/a Rpe65^rd12/Rpe65^rd12

Development
The recessive rd12 mutation arose spontaneously in a male mouse of strain B6.A-H2-T18^a/BoyEg (stock #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 Information

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

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms

Leber Congenital Amaurosis, Type II; LCA2 - 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

Rpe65^rd12/Rpe65^rd12

        C57BL/6J

• vision/eye phenotype
• abnormal eye electrophysiology (MGI Ref ID J:94549)
  • electroretinographic (ERG) analysis reveals progressive loss of retinal function
  • the ERG b-wave amplitude of mutant mice decreases as the mice age
• abnormal cone electrophysiology (MGI Ref ID J:94549)
  • the light-adapted ERG response is delayed and exhibits progressive diminution of amplitude with the age of the mice
• abnormal rod electrophysiology (MGI Ref ID J:94549)
  • by three weeks of age, homozygous mice exhibit a poor dark-adapted (rod) ERG response
• abnormal retinal rod cell outer segment morphology (MGI Ref ID J:94549)
  • 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
  • at 3 months of age, the rod outer segments are of normal thickness; by 27 months the rod outer segments are almost absent
• retinal degeneration (MGI Ref ID J:94549)
  • 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
  • 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
• thin retinal outer nuclear layer (MGI Ref ID J:94549)
  • 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
• nervous system phenotype
• abnormal retinal rod cell outer segment morphology (MGI Ref ID J:94549)
  • 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
  • at 3 months of age, the rod outer segments are of normal thickness; by 27 months the rod outer segments are almost absent

View Research Applications

Research Applications

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

Rpe65^rd12 related

Mouse/Human Gene Homologs
Retinitis pigmentosa 12; Leber congenital amaurosis (CLA)

Research Tools
Sensorineural Research (retinal degeneration)

Sensorineural Research
Retinal Degeneration

Genes & Alleles

Gene & Allele Information

Allele Symbol		Rpe65rd12
Allele Name		retinal degeneration 12
Allele Type		Spontaneous
Strain of Origin		B6.A-H2-T18a/BoyEgJ
Gene Symbol and Name		Rpe65, retinal pigment epithelium 65
Chromosome		3
Gene Common Name(s)		A930029L06Rik; LCA2; Mord1; RIKEN cDNA A930029L06 gene; RP20; mRPE65; modifier of retinal degeneration 1; rd12; retinal degeneration 12; sRPE65;
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 Cto T at position 130 resulting in a stop codon at amino acid 44. 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. [MGI Ref ID J:94549]

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

Rpe65^rd12 related

Chang B; Hawes NL; Hurd RE; Davisson MT; Nusinowitz S; Heckenlively JR. 2002. A point mutation in the Rpe65 gene causes retinal degeneration (rd12) in mice. (The Association for Research in Vision & Ophthalmology Annual Meeting Abstract) Invest Ophthalmol Vis Sci :3670 (Abstr.).  [MGI Ref ID J:94549]

Pang JJ; Chang B; Hawes NL; Hurd RE; Davisson MT; Li J; Noorwez SM; Malhotra R; McDowell JH; Kaushal S; Hauswirth WW; Nusinowitz S; Thompson DA; Heckenlively JR. 2005. Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA). Mol Vis 11:152-62. [PubMed: 15765048]  [MGI Ref ID J:104924]

Pang JJ; Chang B; Heckenlively JR; Nusinowitz S; Noorwez SM; McDowell JH; Kaushal S; Timmers AM; Hauswirth WW). 2004. Gene therapy restores vision in a natural model of RPE65 Leber congenital amaurosis: The rd12 mouse (The Association for Research in Vision & Ophthalmology Annual Meeting Abstracts) Invest Ophthalmol Vis Sci :3486 (Abstr.).  [MGI Ref ID J:94351]

Sasahara M; Otani A; Oishi A; Kojima H; Yodoi Y; Kameda T; Nakamura H; Yoshimura N. 2008. Activation of bone marrow-derived microglia promotes photoreceptor survival in inherited retinal degeneration. Am J Pathol 172(6):1693-703. [PubMed: 18483210]  [MGI Ref ID J:136339]

Thompson S; Mullins RF; Philp AR; Stone EM; Mrosovsky N. 2008. Divergent phenotypes of vision and accessory visual function in mice with visual cycle dysfunction (Rpe65 rd12) or retinal degeneration (rd/rd). Invest Ophthalmol Vis Sci 49(6):2737-42. [PubMed: 18515598]  [MGI Ref ID J:137044]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           A1

Purchasing information

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

Pricing

Supply Details

Standard Supply

Repository-Live. A collection of over 1000 strains maintained as live colonies. Individual colonies are sized to meet current customer demand. Delivery for orders of 10 mice or less ranges on average from one to eight weeks; mice are generally shipped between four to six weeks of age with a maximum shipping age of ~nine weeks. Colony sizes do not generally support stringent age specifications for large volumes of mice; however custom orders and larger quantities of mice are easily arranged. Estimated ship dates for all orders provided within 48 hours of order placement.

Supply Notes

Usually shipped between four and eight weeks of age. This strain is included in the Eye Mutant Resource within the Mouse Mutant Resource collection.

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

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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.

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