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| Retinal degeneration 10 (rd10) is a spontaneous missense point mutation in Pde6b (cGMP phosphodiesterase 6B, rod receptor, beta polypeptide). Although similar to rd1, the rd10 phenotype has a later onset and milder retinal degeneration and may provide a better experimental drug therapy model for retinitis pigmentosa. | |||||||||||||||
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Description
Strain Information
Type Congenic; Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Mating System Homozygote x Homozygote (Female x Male) 18-MAY-09 Species laboratory mouse Background Strain C57BL/6J Donor Strain CXB-1/By Generation N5F15 (20-DEC-04)
Generation DefinitionsAppearance
black
Related Genotype: a/aDescription
Pde6b (cGMP phosphodiesterase 6B, rod receptor, beta polypeptide) encodes the beta subunit of phosphodiesterase (PDE), a peripheral membrane enzyme involved in the phototransduction cascade in rod photoreceptors. Mutations in PDE are associated with retinitis pigmentosa and night blindness. Mice homozygous for retinal degeneration 10 (rd10) exhibit sclerotic retinal vessels at 4 weeks of age, progressive retinal outer nuclear layer degeneration beginning at 16 days, and a progressive decline in rod and cone ERG a- and b- waves. Retinal degeneration is delayed by approximately a week in mice raised in total darkness. Although similar to rd1, the rd10 phenotype has a later onset and milder retinal degeneration and may provide a better experimental drug therapy model for retinitis pigmentosa.Development
The retinal degeneration 10 mutation was identified as a segregating mutation in the CXB1/TyJ strain at The Jackson Laboratory in approximately 1998. Through selective breeding the rd10 mutation was bred out of the CXB1/TyJ recombinant inbred strain, while at the same time the rd10 mutation was backcrossed onto the C57BL/6J background for 5 generations before intercrossing to homozygosity. Sequence analysis demonstrated that the rd10 allele is a missense point mutation in exon 13.
Control Information
| Control | ||
|---|---|---|
| 000664 C57BL/6J | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying other alleles of Pde6b
View Strains carrying other alleles of Pde6b (84 strains)
Phenotype
Phenotype Information
- Model with phenotypic similarity to human disease where etiologies are distinct. Human genes are associated with this disease. Orthologs of these genes do not appear in the mouse genotype(s).
Retinitis Pigmentosa; RP
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Night Blindness, Congenital Stationary, Autosomal Dominant 2; CSNBAD2 (PDE6B)
Retinitis Pigmentosa 40; RP40 (PDE6B)
assigned by genotype
Pde6brd10/Pde6brd10
B6.CXB1-Pde6brd10/J
- vision/eye phenotype
- *normal* vision/eye phenotype (MGI Ref ID J:122722)
- abnormal eye electrophysiology
- mice showed reduced rod and cone responses under both dark- and light-adapted conditions compared to wild-type (MGI Ref ID J:122722)
- a small a-wave appeared only at the brightest flash intensity indicating loss of sensitivity in dark-adapted, 30 day old mice (MGI Ref ID J:122722)
- the loss of cone function was not registered as fast by b-wave response from light-adapted compared to dark-adapted mice (MGI Ref ID J:122722)
- ERG a- and b- wave amplitudes are greater in mice treated with tauroursodeoxycholic acid (MGI Ref ID J:117305)
- abnormal retinal rod cell morphology (MGI Ref ID J:122722)
- abnormal retinal vasculature morphology
- sclerotic retinal vessels are observed at 4 weeks of age (MGI Ref ID J:122722)
- retinal degeneration
- clinical abnormalities are observable at 4 weeks of age (MGI Ref ID J:122722)
- histological analyses show progressive retinal outer nuclear layer degeneration (ONL) beginning in the center at 16 days of age and spreading to the periphery by 20 days of age (MGI Ref ID J:122722)
- by 60 days of age no ONL remains (MGI Ref ID J:122722)
- nuclei counts in the ONL over time reflects progressive degeneration; inner nuclear layers are not affected (MGI Ref ID J:122722)
- dark-reared mice showed no degeneration until 24 days of age with initial nuclei loss apparent at 30 days (MGI Ref ID J:122722)
- tauroursodeoxycholic acid slows onset of degeneration of retinal outer nuclear layers and photoreceptors (MGI Ref ID J:117305)
- retinal outer nuclear layer degeneration
- histological analyses show progressive retinal outer nuclear layer degeneration (ONL) beginning in the center at 16 days of age and spreading to the periphery by 20 days of age (MGI Ref ID J:122722)
- cardiovascular system phenotype
- abnormal retinal vasculature morphology
- sclerotic retinal vessels are observed at 4 weeks of age (MGI Ref ID J:122722)
- nervous system phenotype
- abnormal retinal rod cell morphology (MGI Ref ID J:122722)
Pde6brd10 related
Sensorineural Research
Retinal Degeneration
Genes & Alleles
Gene & Allele Information provided by MGI
| Allele Symbol | Pde6brd10 | ||
|---|---|---|---|
| Allele Name | retinal degeneration 10 | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | Pde6brd1-J; rd10; | ||
| Strain of Origin | CXB1/ByJ | ||
| Gene Symbol and Name | Pde6b, phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide | ||
| Chromosome | 5 | ||
| Gene Common Name(s) | CSNB3; CSNBAD2; PDEB; Pdeb; RP40; nmf137; phosphodiesterase, cGMP, rod receptor, beta polypeptide; r; rd; rd-1; rd1; rd10; retinal degeneration; retinal degeneration 1; retinal degeneration 10; | ||
| Molecular Note | An initial complementation test with Pde6b rd1 demonstrated allelism. Sequence analysis shows that the rd10 mutation is caused by a missense mutation in exon 13, which encodes the beta subunit of the protein. [MGI Ref ID J:75095] | ||
References
References provided by MGI
Additional References
Pde6brd10 relatedAllocca M; Manfredi A; Iodice C; Di Vicino U; Auricchio A. 2011. AAV-mediated gene replacement, either alone or in combination with physical and pharmacological agents, results in partial and transient protection from photoreceptor degeneration associated with betaPDE deficiency. Invest Ophthalmol Vis Sci 52(8):5713-9. [PubMed: 21273543] [MGI Ref ID J:181448]
Arroba AI; Alvarez-Lindo N; van Rooijen N; de la Rosa EJ. 2011. Microglia-mediated IGF-I neuroprotection in the rd10 mouse model of retinitis pigmentosa. Invest Ophthalmol Vis Sci 52(12):9124-30. [PubMed: 22039242] [MGI Ref ID J:191398]
Barhoum R; Martinez-Navarrete G; Corrochano S; Germain F; Fernandez-Sanchez L; de la Rosa EJ; de la Villa P; Cuenca N. 2008. Functional and structural modifications during retinal degeneration in the rd10 mouse. Neuroscience 155(3):698-713. [PubMed: 18639614] [MGI Ref ID J:140868]
Boatright JH; Moring AG; McElroy C; Phillips MJ; Do VT; Chang B; Hawes NL; Boyd AP; Sidney SS; Stewart RE; Minear SC; Chaudhury R; Ciavatta VT; Rodrigues CM; Steer CJ; Nickerson JM; Pardue MT. 2006. Tool from ancient pharmacopoeia prevents vision loss. Mol Vis 12:1706-14. [PubMed: 17213800] [MGI Ref ID J:117305]
Chang B; Hawes NL; Hurd RE; Davisson MT; Nusinowitz S; Heckenlively JR. 2002. Retinal degeneration mutants in the mouse. Vision Res 42(4):517-25. [PubMed: 11853768] [MGI Ref ID J:75095]
Chang B; Hawes NL; Hurd RE; Wang J; Howell D; Davisson MT; Roderick TH; Nusinowitz S; Heckenlively JR. 2005. Mouse models of ocular diseases. Vis Neurosci 22(5):587-93. [PubMed: 16332269] [MGI Ref ID J:156373]
Chang B; Hawes NL; Pardue MT; German AM; Hurd RE; Davisson MT; Nusinowitz S; Rengarajan K; Boyd AP; Sidney SS; Phillips MJ; Stewart RE; Chaudhury R; Nickerson JM; Heckenlively JR; Boatright JH. 2007. Two mouse retinal degenerations caused by missense mutations in the beta-subunit of rod cGMP phosphodiesterase gene. Vision Res 47(5):624-33. [PubMed: 17267005] [MGI Ref ID J:122722]
Corrochano S; Barhoum R; Boya P; Arroba AI; Rodriguez-Muela N; Gomez-Vicente V; Bosch F; de Pablo F; de la Villa P; de la Rosa EJ. 2008. Attenuation of vision loss and delay in apoptosis of photoreceptors induced by proinsulin in a mouse model of retinitis pigmentosa. Invest Ophthalmol Vis Sci 49(9):4188-94. [PubMed: 18515565] [MGI Ref ID J:141803]
Deleon E; Lederman M; Berenstein E; Meir T; Chevion M; Chowers I. 2009. Alteration in iron metabolism during retinal degeneration in rd10 mouse. Invest Ophthalmol Vis Sci 50(3):1360-5. [PubMed: 18997094] [MGI Ref ID J:146676]
Della Santina L; Bouly M; Asta A; Demontis GC; Cervetto L; Gargini C. 2010. Effect of HCN channel inhibition on retinal morphology and function in normal and dystrophic rodents. Invest Ophthalmol Vis Sci 51(2):1016-23. [PubMed: 19741244] [MGI Ref ID J:160427]
Egger A; Samardzija M; Sothilingam V; Tanimoto N; Lange C; Salatino S; Fang L; Garcia-Garrido M; Beck S; Okoniewski MJ; Neutzner A; Seeliger MW; Grimm C; Handschin C. 2012. PGC-1alpha determines light damage susceptibility of the murine retina. PLoS One 7(2):e31272. [PubMed: 22348062] [MGI Ref ID J:185229]
Gargini C; Terzibasi E; Mazzoni F; Strettoi E. 2007. Retinal organization in the retinal degeneration 10 (rd10) mutant mouse: a morphological and ERG study. J Comp Neurol 500(2):222-38. [PubMed: 17111372] [MGI Ref ID J:132845]
Grossman GH; Pauer GJ; Narendra U; Peachey NS; Hagstrom SA. 2009. Early synaptic defects in tulp1-/- mice. Invest Ophthalmol Vis Sci 50(7):3074-83. [PubMed: 19218615] [MGI Ref ID J:154571]
Heynen SR; Tanimoto N; Joly S; Seeliger MW; Samardzija M; Grimm C. 2011. Retinal degeneration modulates intracellular localization of CDC42 in photoreceptors. Mol Vis 17:2934-46. [PubMed: 22128240] [MGI Ref ID J:179662]
Jaliffa C; Ameqrane I; Dansault A; Leemput J; Vieira V; Lacassagne E; Provost A; Bigot K; Masson C; Menasche M; Abitbol M. 2009. Sirt1 involvement in rd10 mouse retinal degeneration. Invest Ophthalmol Vis Sci 50(8):3562-72. [PubMed: 19407027] [MGI Ref ID J:154506]
Mazzoni F; Novelli E; Strettoi E. 2008. Retinal ganglion cells survive and maintain normal dendritic morphology in a mouse model of inherited photoreceptor degeneration. J Neurosci 28(52):14282-92. [PubMed: 19109509] [MGI Ref ID J:143877]
Murakami Y; Ikeda Y; Yoshida N; Notomi S; Hisatomi T; Oka S; De Luca G; Yonemitsu Y; Bignami M; Nakabeppu Y; Ishibashi T. 2012. MutT Homolog-1 Attenuates Oxidative DNA Damage and Delays Photoreceptor Cell Death in Inherited Retinal Degeneration. Am J Pathol 181(4):1378-86. [PubMed: 22841817] [MGI Ref ID J:188705]
Murakami Y; Matsumoto H; Roh M; Suzuki J; Hisatomi T; Ikeda Y; Miller JW; Vavvas DG. 2012. Receptor interacting protein kinase mediates necrotic cone but not rod cell death in a mouse model of inherited degeneration. Proc Natl Acad Sci U S A 109(36):14598-603. [PubMed: 22908283] [MGI Ref ID J:189891]
Ohnaka M; Miki K; Gong YY; Stevens R; Iwase T; Hackett SF; Campochiaro PA. 2012. Long-term expression of glial cell line-derived neurotrophic factor slows, but does not stop retinal degeneration in a model of retinitis pigmentosa. J Neurochem 122(5):1047-53. [PubMed: 22726126] [MGI Ref ID J:187648]
Otani A; Kojima H; Guo C; Oishi A; Yoshimura N. 2012. Low-dose-rate, low-dose irradiation delays neurodegeneration in a model of retinitis pigmentosa. Am J Pathol 180(1):328-36. [PubMed: 22074737] [MGI Ref ID J:180155]
Pang JJ; Boye SL; Kumar A; Dinculescu A; Deng W; Li J; Li Q; Rani A; Foster TC; Chang B; Hawes NL; Boatright JH; Hauswirth WW. 2008. AAV-mediated gene therapy for retinal degeneration in the rd10 mouse containing a recessive PDEbeta mutation. Invest Ophthalmol Vis Sci 49(10):4278-83. [PubMed: 18586879] [MGI Ref ID J:140150]
Phillips MJ; Walker TA; Choi HY; Faulkner AE; Kim MK; Sidney SS; Boyd AP; Nickerson JM; Boatright JH; Pardue MT. 2008. Tauroursodeoxycholic acid preservation of photoreceptor structure and function in the rd10 mouse through postnatal day 30. Invest Ophthalmol Vis Sci 49(5):2148-55. [PubMed: 18436848] [MGI Ref ID J:135201]
Picard E; Jonet L; Sergeant C; Vesvres MH; Behar-Cohen F; Courtois Y; Jeanny JC. 2010. Overexpressed or intraperitoneally injected human transferrin prevents photoreceptor degeneration in rd10 mice. Mol Vis 16:2612-25. [PubMed: 21179240] [MGI Ref ID J:168999]
Puthussery T; Gayet-Primo J; Pandey S; Duvoisin RM; Taylor WR. 2009. Differential loss and preservation of glutamate receptor function in bipolar cells in the rd10 mouse model of retinitis pigmentosa. Eur J Neurosci 29(8):1533-42. [PubMed: 19385989] [MGI Ref ID J:148499]
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]
Singh B; Wilson JH; Vasavada HH; Guo Z; Allore HG; Zeiss CJ. 2007. Motor deficits and altered striatal gene expression in aphakia (ak) mice. Brain Res 1185:283-92. [PubMed: 17949697] [MGI Ref ID J:128707]
Strettoi E; Gargini C; Novelli E; Sala G; Piano I; Gasco P; Ghidoni R. 2010. Inhibition of ceramide biosynthesis preserves photoreceptor structure and function in a mouse model of retinitis pigmentosa. Proc Natl Acad Sci U S A 107(43):18706-11. [PubMed: 20937879] [MGI Ref ID J:165509]
Usui S; Oveson BC; Iwase T; Lu L; Lee SY; Jo YJ; Wu Z; Choi EY; Samulski RJ; Campochiaro PA. 2011. Overexpression of SOD in retina: Need for increase in H(2)O(2)-detoxifying enzyme in same cellular compartment. Free Radic Biol Med 51(7):1347-54. [PubMed: 21736939] [MGI Ref ID J:175696]
Won J; Shi LY; Hicks W; Wang J; Hurd R; Naggert JK; Chang B; Nishina PM. 2011. Mouse model resources for vision research. J Ophthalmol 2011:391384. [PubMed: 21052544] [MGI Ref ID J:166679]
Health & husbandry
Health & Colony Maintenance Information
Animal Health Reports
Room Number A1
Colony Maintenance
Mating System Homozygote x Homozygote (Female x Male) 18-MAY-09
Pricing and Purchasing
Pricing, Supply Level & Notes, Controls
| Pricing for USA, Canada and Mexico shipping destinations |
|
Live Mice
Price per mouse (US dollars $) Gender Genotypes Provided Individual Mouse $126.70 Female or Male Homozygous for Pde6brd10
Price per Pair (US dollars $) Pair Genotype $253.40 Homozygous for Pde6brd10 x Homozygous for Pde6brd10 Standard Supply
Research Strain. Availability determined by The Jackson Laboratory scientist holding the strain.
| Pricing for International shipping destinations |
|
Live Mice
Price per mouse (US dollars $) Gender Genotypes Provided Individual Mouse $164.80 Female or Male Homozygous for Pde6brd10
Price per Pair (US dollars $) Pair Genotype $329.50 Homozygous for Pde6brd10 x Homozygous for Pde6brd10 Standard Supply
Research Strain. Availability determined by The Jackson Laboratory scientist holding the strain.
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Standard Supply
Research Strain. Availability determined by The Jackson Laboratory scientist holding the strain.
General Supply Notes
- This strain is included in the Eye Mutant Resource within the Mouse Mutant Resource collection.
- Genomic DNA is available for this strain from the Mouse DNA Resource.
Control Information
| Control | ||
|---|---|---|
| 000664 C57BL/6J | ||
| Considerations for Choosing Controls | ||
| Control Pricing Information for Genetically Engineered Mutant Strains. | ||
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