Rd2 or retinal degeneration slow (rds) is a dominant spontaneous mutation in Prph2 (peripherin 2), mutant mice are characterized by slow degeneration of the outer nuclear layer of the retina beginning at 5 weeks, and eventual loss of retinal rod and cone cells by 12 months of age. This strain may be useful for studying human retinopathies.
Read More +Genetic Background | Generation |
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N20F98
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Allele Type | Gene Symbol | Gene Name |
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Spontaneous | Prph2 | peripherin 2 |
Allele Type | Gene Symbol | Gene Name |
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Not Applicable | Pde6b | phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide |
Prph2 (peripherin 2) encodes a tetraspanning membrane protein found in the outer segment of both rod and cone photoreceptor cells, which is involved in photoreceptor disc morphogenesis. In this congenic strain, the retinal degeneration 2 (Prph2Rd2) allele was transferred from strain O20/A to C3A.BLiA-Pde6b+ (wild-type for retinal degeneration 1 - rd1).
Rd2 or retinal degeneration slow (rds) is a dominant spontaneous mutation characterized by slow degeneration of the outer nuclear layer of the retina beginning at 5 weeks, loss of retinal rod cells by 7-10 months, loss of cone cells and all visual cell structures by 12 months of age, loss of some pigment epithelial cells and increased density of Muller cells accompanied by fibrillary tangles. This strain may be useful for studying human retinopathies.
This strain was developed in the laboratory of Dr. Willem J. De Grit at Erasmus Universiteit, Rotterdam, the Netherlands. The Prph2Rd2 allele was transferred from strain O20/A to C3A.BLiA-Pde6b+ via more than 20 backcross-intercross cycles (Schalken et al. 1990; S. Sanyal, personal communication). C3A.BLiA-Pde6b+ is a congenic strain having the wildtype Pde6b allele of C57BL/LiA on the C3Hf/HeA background. Since its arrival at The Jackson Laboratory, Stock No. 001979 has been maintained by sibling mating of mice homozygous for both Pde6b+ and Prph2Rd2.
Expressed Gene | Pde6b, phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide, mouse, laboratory |
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Site of Expression | Retina. |
Allele Name | retinal degeneration 2 |
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Allele Type | Spontaneous |
Allele Synonym(s) | Prph2Rds; Rd-2; Rds; rds-; RdsRd2; retinal degeneration slow |
Gene Symbol and Name | Prph2, peripherin 2 |
Gene Synonym(s) | |
Strain of Origin | O20/A |
Chromosome | 17 |
Molecular Note | The mutation is an insertion of approximately 10 kb in the gene after nucleotide 899 (numbering of the encoded mRNA), disrupting the protein coding sequence in exon 2. The inserted DNA was similar to both the TSE of mice, repeated elements found in the H2 complex, and to the mouse early transposon (ETn). Northern blot analysis demonstrated that an aberrant 12 kb transcript was produced from this allele, although at reduced levels compared to wild-type. This allele is predicted to encode a truncated protein with its carboxy terminal 116 amino acids replaced by 35 amino acids from sequences in the insertion. Mutant mice doubly homozygous for two retinal degeneration mutations (Pde6brd1 and RdsRd2) shows an intermediate level of mRNAs for the beta subunit of cGMP-PDE and for several other phototransduction related proteins, suggesting an interaction between Pde6brd1 and RdsRd2. |
Allele Name | wild type |
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Allele Type | Not Applicable |
Allele Synonym(s) | |
Gene Symbol and Name | Pde6b, phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide |
Gene Synonym(s) | |
Expressed Gene | Pde6b, phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide, mouse, laboratory |
Site of Expression | Retina. |
Strain of Origin | Not Applicable |
Chromosome | 5 |
When using the C3A.Cg-Pde6b+ Prph2Rd2/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #001979 in your Materials and Methods section.
Service/Product | Description | Price |
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Homozygous for Prph2<Rd2>, 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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