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- Description
- Disease & phenotype
- Genes & alleles
- Genotyping
- Health & care
- References
- Pricing & purchasing
- 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
Ophthalmoscopic examination showed a mottled retina, indicative of retinal degeneration, and white retinal vessels initially observed at 24 days of age (n=3). A complementation test between NMF137 and C3H/HeJ (RD1; JR#000659) revealed that the retinal degeneration phenotype observed in NMF137 represents a new allele of Pde6b that is different from rd1, and might be useful for studying neurobiological mechanisms related to retinitis pigmentosa. All 14 progeny resulting from two homozygote matings of NMF137 x C3He/J were affected. Electroretinogram recordings revealed that homozygotes have no rod or cone responses at eight weeks, while heterozygotes test normally. The mutants showed extensive and progressive degeneration of the outer nuclear layer of the retina, which appears to be less severe than the degeneration observed in rd1 mutants.Development
This phenotypic deviant was generated by ethylnitrosourea (ENU) mutagenesis in C57BL/6J males (Stock No. 000664), in the Neuroscience Mutagenesis facility at The Jackson Laboratory. Mutagenized males were crossed to C57BL/6J females; G3 descendants of the mutagenized males were selected for neurological impairment. Sequencing results further showed that this mutation corresponds to a point mutation on exon 16.
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 involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
Night Blindness, Congenital Stationary, Autosomal Dominant 2; CSNBAD2
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Retinitis Pigmentosa 40; RP40 (PDE6B)
assigned by genotype
Pde6brd1-2J/Pde6brd1-2J
C57BL/6J-Pde6brd1-2J/J
- vision/eye phenotype
- abnormal eye electrophysiology
- electroretinogram recordings reveal that homozygotes show no detectable rod or cone responses at any age (MGI Ref ID J:122722)
- abnormal retinal vasculature morphology
- white retinal vessels are clinically observed at 24 days of age (MGI Ref ID J:122722)
- retinal degeneration
- indirect opthalmoscopic examination reveals a mottled retina by 24 days of age, indicative of retinal degeneration (MGI Ref ID J:122722)
- 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 (MGI Ref ID J:122722)
- cardiovascular system phenotype
- abnormal retinal vasculature morphology
- white retinal vessels are clinically observed at 24 days of age (MGI Ref ID J:122722)
This mouse can be used to support research in many areas including:Pde6brd1-2J related
Neurobiology Research
Neuroscience Mutagenesis Facility Strain
Sensorineural Research
Retinal Degeneration
Genes & Alleles
Gene & Allele Information provided by MGI
| 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; 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 | 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] | ||
References
References provided by MGI
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. 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]
Pricing and Purchasing
Pricing, Supply Level & Notes, Controls
| Pricing for USA, Canada and Mexico shipping destinations |
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Live Mice
Price per mouse (US dollars $) Gender Genotypes Provided Individual Mouse $139.45 Female or Male Homozygous for Pde6brd1-2J
Price per Pair (US dollars $) Pair Genotype $278.90 Homozygous for Pde6brd1-2J x Homozygous for Pde6brd1-2J Standard Supply
Research Strain. Availability determined by The Jackson Laboratory scientist holding the strain.
| Pricing for International shipping destinations |
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Live Mice
Price per mouse (US dollars $) Gender Genotypes Provided Individual Mouse $181.30 Female or Male Homozygous for Pde6brd1-2J
Price per Pair (US dollars $) Pair Genotype $362.60 Homozygous for Pde6brd1-2J x Homozygous for Pde6brd1-2J 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.
Control Information
| Control | ||
|---|---|---|
| 000664 C57BL/6J | ||
| Considerations for Choosing Controls | ||
| 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 Information
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