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Strain Name: |
C3A.BLiA-Pde6b+.O20-Prph2Rd2/J |
Stock Number: |
001979 |
Availability:
| Repository- Live |
| Former Name |
C3A.BLiA-Pde6b+.O20-RdsRd2/J (Changed: 08-DEC-06
)
|
|
C3A.BLiA-Pde6b+.O20-Prph2Rd2 (Changed: 15-DEC-04
)
|
| Genes & Alleles |
Pde6b;
Pde6b+;
Prph2;
Prph2Rd2;
|
Product Information
Strain Details
| Type |
JAX® GEMM® Strain -
Congenic |
| Additional information on
JAX® GEMM® Strains. |
| Type |
JAX® GEMM® Strain -
Mutant Strain |
| Mating System | Homozygote x Homozygote
(Female x Male) |
|---|
| |
| Species | laboratory mouse |
| Donor Strain |
C57BL/LiA
|
| Generation | ?+F69
(20-DEC-04)
|
|
|
Appearance
agouti
Related Genotype: A/A
Strain Development
This strain was developed in the laboratory of Dr. Willem J. De Grit at Erasmus Universiteit, Rotterdam, the Netherlands. The Prph2Rd2 allele was transferred from strain O20/A to C3A.BLiA-Pde6b+ via more than 20 backcross-intercross cycles (Schalken et al. 1990; S. Sanyal, personal communication). C3A.BLiA-Pde6b+ is a congenic strain having the wildtype Pde6b allele of C57BL/LiA on the C3Hf/HeA background. Since its arrival at The Jackson Laboratory, Stock No. 001979 has been maintained by sibling mating of mice homozygous for both Pde6b+ and Prph2Rd2.
Mammalian Phenotype Terms assigned by genotype
Prph2Rd2/Prph2+
either: (involves: C3H * O20/A) or (involves: C57BL/LiA * O20/A)
- vision/eye phenotype
- abnormal photoreceptor outer segment morphology
(MGI Ref ID J:25582)
- in pigmented heterozygous mice outer segments resemble those in albino mice but have more disc membranes that appear more tightly packed and less vacuolated
- nervous system phenotype
- abnormal photoreceptor outer segment morphology
(MGI Ref ID J:25582)
- in pigmented heterozygous mice outer segments resemble those in albino mice but have more disc membranes that appear more tightly packed and less vacuolated
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Prph2Rd2/Prph2+
either: (involves: BALB/c * O20/A) or (involves: GR/A * O20/A) or (involves: O20/A * STS/A)
- vision/eye phenotype
- abnormal eye development
(MGI Ref ID J:25582)
- at P14, considerable portions of the retinal surface have fewer outer segments and those present have disc structures that are irregularly oriented
- abnormal retinal layer morphology
(MGI Ref ID J:25582)
- abnormal retinal photoreceptor morphology
(MGI Ref ID J:25582)
- at 18 months, some photoreceptor synaptic terminals have multiple synaptic ribbons
- abnormal photoreceptor inner segment morphology
(MGI Ref ID J:25582)
- occasional inner segments with swollen endoplasmic reticuli and vacuoles
- abnormal photoreceptor outer segment morphology
(MGI Ref ID J:25582)
- outer segments are delayed in development but eventually appear throughout the retinal surface
- outer segments are reduced in length and morphologically abnormal appearing as round masses present from the apical end of the inner segments to the pigment epthelial villous processes
- these round masses contain irregular whorls of disc membranes that appear to be swollen and vacuolated
- at 18 months, outer segments become reduced and somewhat patchy
- increased retinal cone cell number
(MGI Ref ID J:25582)
- the percentage of cones in the retina increases from 6 months on, with greater increases in the periphery than in the center of the retina
- abnormal retinal pigment epithelium morphology
(MGI Ref ID J:25582)
- pigment epithelial cells contain larger and more numerous phagosomes
- peak turnover of phagosomes during the light dark cycle is shifted towards the end of the light period
- thin retinal outer nuclear layer
(MGI Ref ID J:25582)
- maximal outer nuclear layer thickness is only 50-60% of wild type
- at 18 months, outer nuclear layer thickness is markedly decreased
- thinning of the outer nuclear layer is first seen in the peripheral retina and later seen in the central retina
- nervous system phenotype
- abnormal retinal photoreceptor morphology
(MGI Ref ID J:25582)
- at 18 months, some photoreceptor synaptic terminals have multiple synaptic ribbons
- abnormal photoreceptor inner segment morphology
(MGI Ref ID J:25582)
- occasional inner segments with swollen endoplasmic reticuli and vacuoles
- abnormal photoreceptor outer segment morphology
(MGI Ref ID J:25582)
- outer segments are delayed in development but eventually appear throughout the retinal surface
- outer segments are reduced in length and morphologically abnormal appearing as round masses present from the apical end of the inner segments to the pigment epthelial villous processes
- these round masses contain irregular whorls of disc membranes that appear to be swollen and vacuolated
- at 18 months, outer segments become reduced and somewhat patchy
- increased retinal cone cell number
(MGI Ref ID J:25582)
- the percentage of cones in the retina increases from 6 months on, with greater increases in the periphery than in the center of the retina
- pigmentation phenotype
- abnormal retinal pigment epithelium morphology
(MGI Ref ID J:25582)
- pigment epithelial cells contain larger and more numerous phagosomes
- peak turnover of phagosomes during the light dark cycle is shifted towards the end of the light period
Prph2Rd2/Prph2+
either: C.O20-Prph2Rd2 or C3.O20-Prph2Rd2
- vision/eye phenotype
- abnormal Muller cell morphology
(MGI Ref ID J:27850)
- at 2 months, high numbers of Muller cells and lower numbers of fibrillar tangles and horizontal fibers are seen relative to homozygous mice
- at 16 months, the density of Muller cells is increased compared to 2 months
- thin retinal outer nuclear layer
(MGI Ref ID J:27850)
- at 16 months, the outer nuclear layer is reduced to 3 to 4 rows
- nervous system phenotype
- abnormal Muller cell morphology
(MGI Ref ID J:27850)
- at 2 months, high numbers of Muller cells and lower numbers of fibrillar tangles and horizontal fibers are seen relative to homozygous mice
- at 16 months, the density of Muller cells is increased compared to 2 months
Prph2Rd2/Prph2Rd2
O20/A-Prph2Rd2
- vision/eye phenotype
- abnormal retinal pigment epithelium morphology
(MGI Ref ID J:25582)
- phagosomes containing debris from the outer nuclear layer are absent
- absent retinal rod cells
(MGI Ref ID J:6051)
- at 7-10 months rods are absent
- retinal degeneration
(MGI Ref ID J:6051)
- slight degenerative changes are seen in the outer nuclear layer starting at 5 weeks
- degeneration slowly progresses until at 7-10 months rods are absent and the photoreceptor cell nuclei are reduced to 1 row
- retinal outer nuclear layer degeneration
(MGI Ref ID J:6051)
- slow degeneration beginning at 5 weeks and progressing until at 7-10 months rods are absent and the photoreceptor cell nuclei are reduced to 1 row
- nervous system phenotype
- absent retinal rod cells
(MGI Ref ID J:6051)
- at 7-10 months rods are absent
- pigmentation phenotype
- abnormal retinal pigment epithelium morphology
(MGI Ref ID J:25582)
- phagosomes containing debris from the outer nuclear layer are absent
Prph2Rd2/Prph2Rd2
either: C.O20-Prph2Rd2 or C3.O20-Prph2Rd2
- vision/eye phenotype
- abnormal Muller cell morphology
(MGI Ref ID J:27850)
- at P11 small numbers of Muller cells and radial fibers are found in the outer plexiform layer
- at P28 the number of Muller cells is increased, the cells tend to be unevenly distributed, and occasional fibrillar tangles are seen in the inner plexiform layer
- at 2 months of age the density of Muller cells has increased dramatically, in the periphery these cells have fibers that penetrate the outer nuclear layer and cover it externally, and the number of fibrillar tangles is increased
- at 9 months of age the density of Muller cells, fibrillar tangles, and horizontal fibers in the plexiform layers is further increased
- thin retinal outer nuclear layer
(MGI Ref ID J:27850)
- at 9 months, the outer nuclear layer is reduced to 2 to 3 rows
- at 18 months, no recognizable outer nuclear layer is seen
- nervous system phenotype
- abnormal Muller cell morphology
(MGI Ref ID J:27850)
- at P11 small numbers of Muller cells and radial fibers are found in the outer plexiform layer
- at P28 the number of Muller cells is increased, the cells tend to be unevenly distributed, and occasional fibrillar tangles are seen in the inner plexiform layer
- at 2 months of age the density of Muller cells has increased dramatically, in the periphery these cells have fibers that penetrate the outer nuclear layer and cover it externally, and the number of fibrillar tangles is increased
- at 9 months of age the density of Muller cells, fibrillar tangles, and horizontal fibers in the plexiform layers is further increased
|
Gene & Allele Details
| Allele Symbol |
Pde6b+ |
| Allele Name |
wild type |
| Mutation Made By | Frank Kooy, University of Antwerp |
| 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;
|
| |
| 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. [MGI Ref ID J:9635]
|
Control Information
Related Strains
Strains carrying Pde6b+ allele
View Strains carrying Pde6b+ (5 strains)
Strains carrying Prph2Rd2 allele
View Strains carrying Prph2Rd2 (2 strains)
Strains carrying other alleles of Pde6b
View Strains carrying other alleles of Pde6b (77 strains)
Additional Web Information
Congenic Nomenclature
Animal Health Reports
Room Number A1
Research Applications
This mouse can be used to support research in many areas including:
Pde6b+ related
Mouse/Human Gene Homologs
retinitis pigmentosa, wildtype
Sensorineural Research
Retinal Degeneration
(wild-type)
Prph2Rd2 related
Mouse/Human Gene Homologs
retinal degeneration, slow
Research Tools
Sensorineural Research
(retinal degeneration)
Sensorineural Research
Retinal Degeneration
References
Selected Reference(s)
Schalken 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]
[MGI Ref ID J:109932]
Additional References
Price and Supply Information
| Strain Name: |
C3A.BLiA-Pde6b+.O20-Prph2Rd2/J |
| Stock Number: |
001979 |
Price Details
IMPORTANT NOTE: Prices are based on shipping destination.
The shipping destinations are:
*Pricing for Shipping Destination selected:
USA, Canada and Mexico
| Price(s) in US dollars ($) | Genotype(s) Provided |
| Individual Mouse Price | $91.40 | Homozygous for Prph2Rd2 | | |
| Pair | $182.80 | Homozygous for Prph2Rd2 x Homozygous for Prph2Rd2 | | |
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 ~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 48 hours of order placement. |
| Supply Notes |
Histology and Tissue Collection Services are available for all JAX® Mice strains. For more information, please contact Customer Service at orderquest@jax.org or 1-800-422-6423.
Usually shipped between four and eight weeks of age.
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.
|
| Licensing | See General Terms and Conditions below
|
| Control Information | View Control Information in Strain Details.
View Control Pricing Information for JAX® Strains. |
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JAX® Mice & Services Conditions of Use.
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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.
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