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Strain Name:

O20/A-Prph2Rd2/J

Stock Number:

001981

Availability:

Repository-Cryopreserved

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General Terms and Conditions

Former Name      O20/A-RdsRd2/J    (Changed: 08-DEC-06 )
      O20/A-Prph2Rd2    (Changed: 15-DEC-04 )
Genes & Alleles   Prph2;   Prph2Rd2;

Product Information

Strain Details

Type JAX® GEMM® Strain - Mutant Strain
Additional information on JAX® GEMM® Strains.
Type JAX® GEMM® Strain - Spontaneous Mutation
Specieslaboratory mouse
Mammalian Phenotype Terms assigned by genotype

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

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: (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

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

        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 Prph2Rd2
Allele Name retinal degeneration 2
Common Name(s) Prph2Rds; Rd-2; Rds; RdsRd2; rds-; retinal degeneration slow;
Strain of OriginO20/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]

Related Strains

Strains carrying   Prph2Rd2 allele
001957   C3A Pde6brd1.O20/A-Prph2Rd2/J
001979   C3A.BLiA-Pde6b+.O20-Prph2Rd2/J
View Strains carrying   Prph2Rd2     (2 strains)

Research Applications

This mouse can be used to support research in many areas including:

Prph2Rd2 related

Mouse/Human Gene Homologs
retinal degeneration, slow

Research Tools
Sensorineural Research (retinal degeneration)

Sensorineural Research
Retinal Degeneration

References

Additional References

Price and Supply Information

Strain Name: O20/A-Prph2Rd2/J
Stock Number: 001981

Price Details

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Supply Details

Standard SupplyRepository-Cryopreserved. Must Be Recovered. Please refer to pricing and 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.
One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services: Tel: 1-800-422-6423 or 1-207-288-5845; Email: jaxservices@jax.org.

LicensingSee General Terms and Conditions below  

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The Jackson Laboratory's Genotype Promise

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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