These mice carry both the Pde6brd1 (retinal degeneration 1, originally rd) and the Prph2Rd2 (retinal degeneration 2 or retinal degeneration slow, originally rds) mutations on a C3H genetic background. Double homozygous mutants show intermediate levels of mRNA coding for opsin, the alpha-subunit of transducin, 48 kDa protein and the beta-subunit of cGMP-phosphodiesterase between those observed in the two separate homozygotes for all mRNAs studied, suggesting a possible interaction between the Pde6brd1 and Prph2Rd2 genes.
Genetic Background | Generation |
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|
Allele Type | Gene Symbol | Gene Name |
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Spontaneous | Pde6b | phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide |
Allele Type | Gene Symbol | Gene Name |
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Spontaneous | Prph2 | peripherin 2 |
See article "Genetic Background Effects: Can Your Mice See?", JAX® NOTES Spring 2002, No. 485.
These mice carry both the Pde6brd1 (retinal degeneration 1, originally rd) and the Prph2Rd2 (retinal degeneration 2 or retinal degeneration slow, originally rds) mutations on a C3H genetic background. Double homozygous mutants show intermediate levels of mRNA coding for opsin, the alpha-subunit of transducin, 48 kDa protein and the beta-subunit of cGMP-phosphodiesterase between those observed in the two separate homozygotes for all mRNAs studied, suggesting a possible interaction between the Pde6brd1 and Prph2Rd2 genes.
This strain was developed in the laboratory of Dr. Willem J. De Grip at Erasmus Universiteit, Rotterdam, the Netherlands. Mice of strains homozygous for Prph2Rd2 and for Pde6brd1 were crossed to produce double heterozygotes; these F1 animals were then intercrossed, and mice homozygous for both mutations were selected from the F2 for further breeding. The Pde6brd1 strain used was derived from an intercross following 8 generations of backcrossing the wild type Pde6b allele from C57BL/LiA onto the C3Hf/HeA background; this homozygous Pde6brd1/Pde6brd1 line was the partner strain of the homozygous Pde6b wildtype C3A.BLiA-Pde6b+ (see Stock No. 001912) derived from the same intercross. The latter was the parent strain of the Prph2Rd2 strain, C3A.Cg-Pde6b+ Prph2Rd2 (see Stock No. 001979) used in the initial cross leading to the present strain. Thus, the background of Stock No. 001957 is primarily C3Hf/HeA, but small regions of the genome may be derived from O20/A and/or from C57BL/LiA.
Control for RdsRd2 alone: C3H/HeJ (Stock No. 000659)
Allele Name | retinal degeneration 1 |
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Allele Type | Spontaneous |
Allele Synonym(s) | Pdebrd1; rd; rd1; rd-1; rodless retina |
Gene Symbol and Name | Pde6b, phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide |
Gene Synonym(s) | |
Strain of Origin | various |
Chromosome | 5 |
General Note | The following inbred strains are known to be homozygous for Pde6b |
Molecular Note | Two mutations have been identified in rd1 mice. A murine leukimia virus (Xmv-28) insertion in reverse orientation in intron 1 is found in all mouse strains with the rd1 phenotype. Further, a nonsense mutation (C-to-A transversion) in codon 347 that results in a truncation eliminating more than half of the predicted encoded protein, including the catalytic domain, has been identified in all rd1 strains of mice. A specific degradation of mutant transcript during or after pre-mRNA splicing is suggested. |
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. |
When using the rd, rds double homozygote mouse strain in a publication, please cite the originating article(s) and include JAX stock #001957 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Homozygous for Pde6b<rd1>.,Homozygous Prph2<Rd2> |
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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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