Strain Name: |
C3A Pde6brd1.O20/A-Prph2Rd2/J |
|---|---|
Stock Number: |
001957 |
Availability: | Repository-Cryopreserved |
General Terms and Conditions |
| Former Name |
C3A Pde6brd1.O20/A-RdsRd2/J (Changed: 08-DEC-06
) |
|
C3A Pde6brd1.O20/A-Prph2Rd2 (Changed: 15-DEC-04
) | |
| Genes & Alleles | Pde6b; Pde6brd1; Prph2; Prph2Rd2; |
Product Information
Strain Details
Type JAX® GEMM® Strain - Congenic Additional information on JAX® GEMM® Strains. Type JAX® GEMM® Strain - Mutant Strain Species laboratory mouse Important Note
See article "Genetic Background Effects: Can Your Mice See?", JAX Notes Spring 2002, No. 485.Strain Development
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 strain C3A.BLiA-+Pdeb (Stock No. 001912), derived from the same intercross. The latter was the parent strain of the Prph2Rd2 strain, C3HeA.BLiA-+Pde6b.O20A-Prph2Rd2 (see Stock No. 001979), used in the initial cross leading to the present strain (Schalken et al. 1990; S. Sanyal, personal communication). 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.
Mammalian Phenotype Terms assigned by genotype |
Gene & Allele Details
| Allele Symbol | Pde6brd1 | ||
|---|---|---|---|
| Allele Name | retinal degeneration 1 | ||
| Common Name(s) | rd; rd-1; rd1; rodless retina; | ||
| Gene Symbol and Name | Pde6b, phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide | ||
| Chromosome | 5 | ||
| Gene Common Name(s) | CSNB3; PDEB; Pdeb; RP40; nmf137; phosphodiesterase, cGMP, rod receptor, beta polypeptide; r; rd; rd-1; rd1; rd10; retinal degeneration; retinal degeneration 1; retinal degeneration 10; | ||
| General Note |
Pde6brd1, retinal degeneration 1, recessive. Formerly r, rd, rd1. A mutation causing retinal degeneration described by Bruckner (J:25576) and by Tansley (J:15333) in various stocks was later found to be present in many inbred strains (J:114). Keeler (J:5007) thought it to be identical with the rodless retina mutation he had described in 1924 (J:24999); the identity has recently been proven by analyses of DNA from Keeler's original slides (J:15231). Homozygotes are fully viable and fertile.Eyes develop normally up to 7 to 10 days after birth. At this stage the outer segment of the rod cell has begun to form, and in wild type mice it elongates rapidly during the 10th to 15th days. In Pde6brd1/Pde6brd1 mice the nascent outer segments and the rod cells degenerate rapidly so that by 15 days there is only a thin layer of rod cells left, and they have disappeared completely by 35 days (J:5250, J:5708). The inner nuclear layer and the retinal ganglion cells appear normal butmay show slight quantitative reduction (J:5812, J:5292). Although the eyes of Pde6brd1 homozygotes are devoid of normal rods, the mice have some visual capacity (J:5980). About 3% of cones among the visual cells degenerate at a much slower rate than do rods, so that a few cones are still present at 18 months (J:5988). The surviving cones are postulated (J:25157) as the light receptors required for the persistence of circadian responses to dawn and dusk in Pde6brd1 homozygotes past the sstage when rods have disappeared (J:29236). In fusion chimeras between wild type and Pde6brd1 homozygous embryos, the Pde6brd1 mutant acts in the photoreceptor cells rather than in the pigment epithelium of the retina (J:5708). Action within photoreceptor cells is also implied by the long term survival of wild type rod cells transplanted into Pde6brd1 homozygote retinas (J:20769). At a stage before degeneration can be seen, a deficiency of cGMP-PDE, andan excess of cGMP, appears in rod photoreceptor cells (J:5332). The rate of retinal degeneration in mutants doubly homozygous for two retinal degeneration mutations (Pde6brd1 and RdsRd2) is intermediate between those of the two homozygotes (J:12044). The double homozygote shows an intermediate level of mRNAs for the ß subunit of cGMP-PDE and for several other phototransduction related proteins, suggesting an interaction between Pde6brd1 and RdsRd2 (J:2579). Genbank ID for mutant sequence: M75166 | ||
| 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 also been identified in all rd1 strains of mice. A specific degradation of mutant transcript during or after pre-mRNA splicing is suggested. [J:11513] [J:4366] [J:51361] | ||
| Allele Symbol | Prph2Rd2 | ||
| Allele Name | retinal degeneration 2 | ||
| Common Name(s) | Prph2Rds; Rd-2; Rds; RdsRd2; rds-; retinal degeneration slow; | ||
| Strain of Origin | O20/A | ||
| Gene Symbol and Name | Prph2, peripherin 2 | ||
| Chromosome | 17 | ||
| Gene Common Name(s) | AOFMD; AVMD; PRPH; RDS; RP7; RSRDS; Rd-2; Rd2; Rds; TSPAN22; retinal degeneration 2; retinal degeneration, slow; retinal degeneration, slow (retinitis pigmentosa 7); | ||
| General Note | The rate of retinal degeneration in mutants doubly homozygous for two retinal degeneration mutations (Pde6brd1 and RdsRd2) is intermediate between those of the two homozygotes (J:12044). The double homozygote 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 (J:2579). | ||
| 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. [J:9635] | ||
Control Information
|
Control for Pde6brd1 alone: C3HeA.BLiA-+Pde6b.020-RdsRd2 (Stock No. 001979) Control for RdsRd2 alone: C3H/HeJ (Stock No. 000659) | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying Pde6brd1 allele
View Strains carrying Pde6brd1 (74 strains)
001979 C3A.BLiA-Pde6b+.O20-Prph2Rd2/J 001981 O20/A-Prph2Rd2/J
004297 B6.CXB1-Pde6brd10/J 002802 C3.BLiA Pde6b+-Krd/J 001979 C3A.BLiA-Pde6b+.O20-Prph2Rd2/J 001912 C3A.BLiA-Pde6b+/J 003648 C3Sn.BLiA-Pde6b+/Dn 004766 C57BL/6J-Pde6brd1-2J/J 004828 FVB.129P2-Pde6b+ Tyrc-ch/AntJ 004808 STOCK Mapttm1(EGFP)Klt Tg(MAPT)8cPdav/J
Additional Web Information
Congenic Nomenclature
JAX Notes, Spring 2002; 485. Genetic Background Effects: Can Your Mice See?
Research Applications
This mouse can be used to support research in many areas including:Pde6brd1 related
Prph2Rd2 relatedMouse/Human Gene Homologs
retinitis pigmentosa, autosomal recessive
Sensorineural Research
Retinal Degeneration
Mouse/Human Gene Homologs
retinal degeneration, slow
Research Tools
Sensorineural Research (retinal degeneration)
Sensorineural Research
Retinal Degeneration
References
Selected Reference(s)
Additional ReferencesSchalken JJ; Janssen JJ; Sanyal S; Hawkins RK; de Grip WJ. 1990. Development and degeneration of retina in rds mutant mice: immunoassay of the rod visual pigment rhodopsin. Biochim Biophys Acta 1033(1):103-9. [PubMed: 2137350] [J:109932]
Price and Supply Information
| Strain Name: | C3A Pde6brd1.O20/A-Prph2Rd2/J |
| Stock Number: | 001957 |
Price Details
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Supply Details
| Standard Supply | Repository-Cryopreserved. Must Be Recovered. Please refer to the Supply Notes for further information. |
|---|---|
| Supply Notes |
Cryorecovery - Standard. The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery. Cryorecovery to establish a Dedicated Supply for greater quantities of mice. |
| Licensing | See General Terms and Conditions below |
| Control Information | View Control Information in Strain Details. |
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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.Ordering and Purchasing Information
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