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- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
- Terms of Use
Description
Strain Information
Former Names C57BL/6J-Pde6b2J/J (Changed: 07-AUG-07 ) C57BL/6J-Pde6bnmf137 (Changed: 15-DEC-04 ) C57BL/6J-Pde6bnmf137/J (Changed: 15-DEC-04 ) NMF137 (Changed: 15-DEC-04 ) Type Chemically Induced Mutation; Coisogenic; Mutant Strain; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse H2 Haplotype b Appearance
black
Related Genotype: a/aDescription
View strain phenotype and additional information on the Neuroscience Mutagenesis Facility web page for Pde6b2J entry.
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 (83 strains)
Phenotype
Phenotype Information
Night Blindness, Congenital Stationary, Autosomal Dominant 2; CSNBAD2 - 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).
assigned by genotype
Pde6brd1-2J/Pde6brd1-2J
C57BL/6J-Pde6brd1-2J/J
- vision/eye phenotype
- abnormal eye electrophysiology (MGI Ref ID J:122722)
- electroretinogram recordings reveal that homozygotes show no detectable rod or cone responses at any age
- abnormal retinal vasculature (MGI Ref ID J:122722)
- white retinal vessels are clinically observed at 24 days of age
- retinal degeneration (MGI Ref ID J:122722)
- indirect opthalmoscopic examination reveals a mottled retina by 24 days of age, indicative of retinal degeneration
- histological analysis demonstrates extensive degeneration of the outer nuclear layer of the retina by 16 days of age and no outer nuclear layer remaining by 30 days of age
- cardiovascular system phenotype
- abnormal retinal vasculature (MGI Ref ID J:122722)
- white retinal vessels are clinically observed at 24 days of age
This mouse can be used to support research in many areas including:Pde6brd1-2J related
Mouse/Human Gene Homologs
retinitis pigmentosa, autosomal recessive
Neurobiology Research
Neuroscience Mutagenesis Facility Strain
Sensorineural Research
Retinal Degeneration
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Pde6brd1-2J | ||
|---|---|---|---|
| Allele Name | retinal degeneration 1, 2 Jackson | ||
| Allele Type | Chemically induced (ENU) | ||
| Common Name(s) | NMF137; Pde6b2J; Pde6bnmf137; neuroscience mutagenesis facility, 137; | ||
| Strain of Origin | C57BL/6J | ||
| 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; | ||
| Molecular Note | This mutation was shown by genetic complementation analysis to be an allele of Pde6b. Molecular sequence analysis showed that this mutation corresponds to a point mutation in exon 16. [MGI Ref ID J:122722] | ||
Genotyping
Genotyping Information
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Genotyping resources and troubleshooting
References
References
Additional References
Pde6brd1-2J relatedChang 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]
JAX Neuroscience Mutagenesis Facility URL: http://www.jax.org/nmf. 2003. Heritable mouse mutants from JAX NMF ENU Mutagenesis Program MGI Direct Data Submission :. [MGI Ref ID J:82238]
Sakamoto K; McCluskey M; Wensel TG; Naggert JK; Nishina PM. 2009. New mouse models for recessive retinitis pigmentosa caused by mutations in the Pde6a gene. Hum Mol Genet 18(1):178-92. [PubMed: 18849587] [MGI Ref ID J:142108]
Purchasing information
Pricing, Supply Level & Notes, Controls, General Terms & Conditions
Pricing
| Pricing for USA, Canada and Mexico shipping destinations |
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Weeks of Age Price (US dollars $) Gender Genotypes Provided Individual Mouse $107.90 Female or Male Homozygous for Pde6brd1-2J
Pairs /Price (US dollars $) Pair Genotype $215.80 Homozygous for Pde6brd1-2J x Homozygous for Pde6brd1-2J
Additional Supply Details
| Pricing for International shipping destinations |
|
Weeks of Age Price (US dollars $) Gender Genotypes Provided Individual Mouse $140.30 Female or Male Homozygous for Pde6brd1-2J
Pairs /Price (US dollars $) Pair Genotype $280.60 Homozygous for Pde6brd1-2J x Homozygous for Pde6brd1-2J
Additional Supply Details
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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 approximately 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 two business days following order placement. |
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| Supply Notes |
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Control Information
| Control | ||
|---|---|---|
| 000664 C57BL/6J | ||
| 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. | ||
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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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