Overview

Rd2 or retinal degeneration slow (rds) is a dominant spontaneous mutation in Prph2 (peripherin 2), mutant mice are characterized by slow degeneration of the outer nuclear layer of the retina beginning at 5 weeks, and eventual loss of retinal rod and cone cells by 12 months of age. This strain may be useful for studying human retinopathies.

Genetic overview

Genetic Background	Generation
	N20F98 (2020-04-23 00:00:00)

Prph2^Rd2

Allele Type	Gene Symbol	Gene Name
Spontaneous	Prph2	peripherin 2

Pde6b⁺

Allele Type	Gene Symbol	Gene Name
Not Applicable	Pde6b	phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide

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Research Applications

Research Tools
Mouse/Human Gene Homologs
Sensorineural Research

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Base Price

Starting at:

$135.09 Domestic price for female

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Details

Detailed Description

Prph2 (peripherin 2) encodes a tetraspanning membrane protein found in the outer segment of both rod and cone photoreceptor cells, which is involved in photoreceptor disc morphogenesis. In this congenic strain, the retinal degeneration 2 (Prph2^Rd2) allele was transferred from strain O20/A to C3A.BLiA-Pde6b⁺ (wild-type for retinal degeneration 1 - rd1).
Rd2 or retinal degeneration slow (rds) is a dominant spontaneous mutation characterized by slow degeneration of the outer nuclear layer of the retina beginning at 5 weeks, loss of retinal rod cells by 7-10 months, loss of cone cells and all visual cell structures by 12 months of age, loss of some pigment epithelial cells and increased density of Muller cells accompanied by fibrillary tangles. This strain may be useful for studying human retinopathies.

Development

This strain was developed in the laboratory of Dr. Willem J. De Grit at Erasmus Universiteit, Rotterdam, the Netherlands. The Prph2^Rd2 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 Prph2^Rd2.

Expression Data

Expressed Gene	Pde6b, phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide, mouse, laboratory
Site of Expression	Retina.

Control Suggestions

001912 C3A.BLiA-Pde6b⁺/J

Additional Information

Considerations for Choosing Controls

Selected References

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):103-9PubMed: 2137350 MGI: J:109932

View All References

Genetics

Prph2^Rd2

Allele Symbol: Prph2^Rd2

Allele Name	retinal degeneration 2
Allele Type	Spontaneous
Allele Synonym(s)	Prph2^Rds; Rd-2; Rds; rds-; Rds^Rd2; retinal degeneration slow
Gene Symbol and Name	Prph2, peripherin 2
Gene Synonym(s)
Strain of Origin	O20/A
Chromosome	17
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. Mutant mice doubly homozygous for two retinal degeneration mutations (Pde6b^rd1 and Rds^Rd2) shows an intermediate level of mRNAs for the beta subunit of cGMP-PDE and for several other phototransduction related proteins, suggesting an interaction between Pde6b^rd1 and Rds^Rd2.

Pde6b⁺

Allele Symbol: Pde6b⁺

Allele Name	wild type
Allele Type	Not Applicable
Allele Synonym(s)
Gene Symbol and Name	Pde6b, phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide
Gene Synonym(s)
Expressed Gene	Pde6b, phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide, mouse, laboratory
Site of Expression	Retina.
Strain of Origin	Not Applicable
Chromosome	5

Disease/Phenotype

Disease Terms

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).

retinitis pigmentosa 7

Research Areas By Phenotype

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

Genotype: Prph2^Rd2 related

Research Tools
- Sensorineural Research
  - retinal degeneration
Sensorineural Research
- Retinal Degeneration
Mouse/Human Gene Homologs
- retinal degeneration, slow

Genotype: Pde6b⁺ related

Mouse/Human Gene Homologs
- retinitis pigmentosa, wildtype
Sensorineural Research
- Retinal Degeneration
  - wild-type

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: Prph2^Rd2/Prph2^Rd2
O20/A-Prph2

cardiovascular system phenotype

retinal neovascularization
- extensive vascularization at 12 months of age

pigmentation phenotype

abnormal retinal pigment epithelium morphology
- at 12 months of age the pigment epithelium appears patchy with normal appearing areas adjacent to areas lacking pigment epithelial cells
- phagosomes containing debris from the outer nuclear layer are absent

hematopoietic system phenotype

abnormal macrophage morphology
- as the outer nuclear layer thins, fewer macrophages are detected in this layer of the retina
- at 12 months of age only a few small macrophages remain in the outer aspect of the inner nuclear layer
- at P11 macrophages in the retina remain large and display high levels of glucosaminidase activity

vision/eye phenotype

abnormal eye electrophysiology
- absence of detectable a-wave at all intensities tested at 6-7 and 13 months of age
- b-wave amplitudes are reduced but still detectable at higher intensities at 6-7 months of age
- smaller a-wave and b-wave amplitudes at all intensities tested at 1 and 2-3 months of age compared to age matched controls
- time to peak of the waves is increased at 2-3 months of age but not at 1 month of age compared to age matched controls

abnormal retina morphology
- thin with distorted structure at 12 months of age

abnormal retinal cone cell morphology
- at 2 months of age the percentage of cones is higher in the periphery compared to wild-type controls
- the percentage of cones in the periphery further increases up until 6 months of age

abnormal retinal development
- decrease in growth of retinal thickness from P7 onwards
- morphological differences from controls are clearly recognizable by P14

abnormal retinal neuronal layer morphology
- at 9 months of age in some areas the outermost row of the inner nuclear layer has merged with the outer nuclear layer

abnormal retinal outer nuclear layer morphology
- at 9 months of age a single row of outer nuclei is present in the centrally located region surrounding the optic nerve head and in the most outlying region approaching the periphery, while in areas lying between these two regions, two or three rows of nuclei are seen in the outer layer
- lei are seen in the outer layer
- maximal thickness is detected on P7 compared to P11 in wild-type controls

abnormal retinal photoreceptor layer morphology
- at 9 months of age in some areas this layer is absent
- growth continues until P21 but by P28 a reduction in photoreceptor layer thickness is seen
- retarded growth of the photoreceptor layer is visible from P7 onwards

abnormal retinal photoreceptor morphology
- at 12 months of age, all visual cell structures are gone
- at 2 months of age the extreme margins of the retina lack visual cells
- at 9 months of age extensive areas of the retina completely lack visual cells

abnormal retinal pigment epithelium morphology
- at 12 months of age the pigment epithelium appears patchy with normal appearing areas adjacent to areas lacking pigment epithelial cells
- phagosomes containing debris from the outer nuclear layer are absent

abnormal retinal rod cell outer segment morphology
- the layer of rod outer segments fails to develop

absent photoreceptor outer segment
- retinal photoreceptor cells lack outer segments

absent retinal cone cells
- at 12 months of age

absent retinal rod cells
- at 12 months of age
- at 7-10 months rods are absent

decreased total retina thickness
- observed at 12 months of age

retinal degeneration
- at 12 months of age, all visual cell structures are gone and degenerative changes are observed in other layers of the retina
- at 18-24 months of age continuing degeneration results in further distortion and thinning of the retina
- at 9 months of age extensive areas of the retina completely lack visual cells
- by 28 days of age thinning of the photoreceptor and outer plexiform layers is seen
- degeneration slowly progresses until at 7-10 months rods are absent and the photoreceptor cell nuclei are reduced to 1 row
- detectable at P14 as a decrease in the thickness of the outer nuclear layer
- slight degenerative changes are seen in the outer nuclear layer starting at 5 weeks

retinal neovascularization
- extensive vascularization at 12 months of age

retinal outer nuclear layer degeneration
- degeneration of the outer nuclear cell (ONL) layer is seen as early as 2 weeks of age
- 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

thin retinal outer nuclear layer
- at 2 months of age thickness is reduced by about 50%
- progressive reduction in thickness of the ONL starting at P14

thin retinal outer plexiform layer
- detectable at P28 and slowly progresses with age
- thinning is more conspicuous in peripheral areas at P28

immune system phenotype

abnormal macrophage morphology
- as the outer nuclear layer thins, fewer macrophages are detected in this layer of the retina
- at 12 months of age only a few small macrophages remain in the outer aspect of the inner nuclear layer
- at P11 macrophages in the retina remain large and display high levels of glucosaminidase activity

nervous system phenotype

abnormal retinal cone cell morphology
- at 2 months of age the percentage of cones is higher in the periphery compared to wild-type controls
- the percentage of cones in the periphery further increases up until 6 months of age

abnormal retinal photoreceptor morphology
- at 12 months of age, all visual cell structures are gone
- at 2 months of age the extreme margins of the retina lack visual cells
- at 9 months of age extensive areas of the retina completely lack visual cells

abnormal retinal rod cell outer segment morphology
- the layer of rod outer segments fails to develop

absent photoreceptor outer segment
- retinal photoreceptor cells lack outer segments

absent retinal cone cells
- at 12 months of age

absent retinal rod cells
- at 12 months of age
- at 7-10 months rods are absent

Genotype: Prph2^Rd2/Prph2⁺
either: (involves: BALB/c * O20/A) or (involves: GR/A * O20/A) or (involves: O20/A * STS/A)

nervous system phenotype

abnormal photoreceptor inner segment morphology
- occasional inner segments with swollen endoplasmic reticuli and vacuoles

abnormal photoreceptor outer segment morphology
- at 18 months, outer segments become reduced and somewhat patchy
- 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

abnormal retinal photoreceptor morphology
- at 18 months, some photoreceptor synaptic terminals have multiple synaptic ribbons

increased retinal cone cell number
- 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

vision/eye phenotype

abnormal eye development
- at P14, considerable portions of the retinal surface have fewer outer segments and those present have disc structures that are irregularly oriented

abnormal photoreceptor inner segment morphology
- occasional inner segments with swollen endoplasmic reticuli and vacuoles

abnormal photoreceptor outer segment morphology
- at 18 months, outer segments become reduced and somewhat patchy
- 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

abnormal retinal layer morphology

abnormal retinal photoreceptor morphology
- at 18 months, some photoreceptor synaptic terminals have multiple synaptic ribbons

abnormal retinal pigment epithelium morphology
- peak turnover of phagosomes during the light dark cycle is shifted towards the end of the light period
- pigment epithelial cells contain larger and more numerous phagosomes

increased retinal cone cell number
- 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

thin retinal outer nuclear layer
- at 18 months, outer nuclear layer thickness is markedly decreased
- maximal outer nuclear layer thickness is only 50-60% of wild-type
- thinning of the outer nuclear layer is first seen in the peripheral retina and later seen in the central retina

pigmentation phenotype

abnormal retinal pigment epithelium morphology
- peak turnover of phagosomes during the light dark cycle is shifted towards the end of the light period
- pigment epithelial cells contain larger and more numerous phagosomes

Genotype: Prph2^Rd2/Prph2^Rd2
either: C.O20-Prph2 or C3.O20-Prph2

nervous system phenotype

abnormal Muller cell morphology
- 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
- 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

vision/eye phenotype

abnormal Muller cell morphology
- 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
- 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

thin retinal outer nuclear layer
- at 18 months, no recognizable outer nuclear layer is seen
- at 9 months, the outer nuclear layer is reduced to 2 to 3 rows

Genotype: Prph2^Rd2/Prph2⁺
either: C.O20-Prph2 or C3.O20-Prph2

nervous system phenotype

abnormal Muller cell morphology
- at 16 months, the density of Muller cells is increased compared to 2 months
- at 2 months, high numbers of Muller cells and lower numbers of fibrillar tangles and horizontal fibers are seen relative to homozygous mice

vision/eye phenotype

abnormal Muller cell morphology
- at 16 months, the density of Muller cells is increased compared to 2 months
- at 2 months, high numbers of Muller cells and lower numbers of fibrillar tangles and horizontal fibers are seen relative to homozygous mice

thin retinal outer nuclear layer
- at 16 months, the outer nuclear layer is reduced to 3 to 4 rows

Genotype: Prph2^Rd2/Prph2^Rd2
involves: BALB/c * O20/A

vision/eye phenotype

abnormal eye electrophysiology
- at 4 months, a small-amplitude b-wave is recorded

retinal degeneration
- mice exhibit 8 or 9 rows of photoreceptor nuclei at 1 months and 3 or 4 rows at 4 months

Genotype: Prph2^Rd2/Prph2⁺
involves: O20/A

nervous system phenotype

abnormal photoreceptor outer segment disc membrane morphology
- highly abnormal membrane swirls in the outer segment

short photoreceptor outer segment
- outer segment layers are thinner

vision/eye phenotype

abnormal ocular fundus morphology
- 2/10 eyes exhibit very mild signs of flecking in the fundus at P180

abnormal photoreceptor outer segment disc membrane morphology
- highly abnormal membrane swirls in the outer segment

abnormal rod electrophysiology
- scotopic ERG responses are reduced at P30 and P180

decreased a wave amplitude
- scotopic a wave amplitude is reduced at P30 and P180

decreased b wave amplitude
- Normal - however, phototopic b wave amplitudes are similar to wild-type mice at P30
- scotopic b wave amplitude is reduced at P30 and P180

retinal outer nuclear layer degeneration
- the outer nuclear layer is thinner by P180 but not at P30

short photoreceptor outer segment
- outer segment layers are thinner

Genotype: Prph2^Rd2/Prph2^Rd2
involves: O20/A

nervous system phenotype

retinal photoreceptor degeneration
- photoreceptor degeneration is severe by P180

vision/eye phenotype

abnormal cone electrophysiology
- photopic ERG responses are lower

abnormal ocular fundus morphology
- Normal - however, no changes in retinal vasculature are seen at P180
- widespread yellow flecks are seen in the fundus at P180

abnormal rod electrophysiology
- scotopic responses are reduced at P30 and P180, with no mice exhibiting an a-wave above the limit of detection

decreased a wave amplitude
- absent scotopic a-wave amplitude

decreased b wave amplitude
- photopic b wave amplitude is reduced at P30 and P180
- scotopic b wave amplitude is reduced at P30 and P180

retinal outer nuclear layer degeneration
- small reduction in the outer nuclear layer thickness at P30 and by P180, the outer nuclear layer is thin in the central retina and almost absent in the periphery

retinal photoreceptor degeneration
- photoreceptor degeneration is severe by P180

The following phenotype relates to a compound genotype created using this strain

Genotype: Prph2^Rd2/Prph2⁺
either: (involves: C3H * O20/A) or (involves: C57BL/LiA * O20/A)

nervous system phenotype

abnormal photoreceptor outer segment morphology
- Background Sensitivity - in pigmented heterozygous mice outer segments resemble those in albino mice but have more disc membranes that appear more tightly packed and less vacuolated

vision/eye phenotype

abnormal photoreceptor outer segment morphology
- Background Sensitivity - in pigmented heterozygous mice outer segments resemble those in albino mice but have more disc membranes that appear more tightly packed and less vacuolated

References

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):103-9PubMed: 2137350 MGI: J:109932

Additional References

Chang B; Hawes NL; Hurd RE; Davisson MT; Nusinowitz S; Heckenlively JR. 2002. Retinal degeneration mutants in the mouse. Vision Res 42(4):517-25PubMed: 11853768 MGI: J:75095

Additional - Pde6b⁺ related

Additional - Prph2^Rd2 related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Standard PCR:Prph2
- Standard PCR:Generic Pde6b Alternate1
- Probe:Pde6b Probe
- Genotyping resources and troubleshooting
Mating System
- Homozygote x Homozygote
Appearance
- agouti
  Related Genotype: A/A
Citation
When using the C3A.Cg-Pde6b⁺ Prph2^Rd2/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #001979 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

MGL277 (Low)

Pricing & Availability

Availability Varies

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International

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Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	Homozygous for Prph2<Rd2>, 1 pair minimum

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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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

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Genetic overview

Research Applications

Base Price

Detailed Description

Development

Expression Data

Control Suggestions

Additional Information

Selected References

Prph2Rd2

Allele Symbol: Prph2Rd2

Pde6b+

Allele Symbol: Pde6b+

Disease Terms

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).

Research Areas By Phenotype

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

Genotype: Prph2Rd2 related

Genotype: Pde6b+ related

Mammalian Phenotype Terms by Genotype

Genotype: Prph2Rd2/Prph2Rd2O20/A-Prph2

cardiovascular system phenotype

pigmentation phenotype

hematopoietic system phenotype

vision/eye phenotype

immune system phenotype

nervous system phenotype

Genotype: Prph2Rd2/Prph2+either: (involves: BALB/c * O20/A) or (involves: GR/A * O20/A) or (involves: O20/A * STS/A)

nervous system phenotype

vision/eye phenotype

pigmentation phenotype

Genotype: Prph2Rd2/Prph2Rd2either: C.O20-Prph2 or C3.O20-Prph2

nervous system phenotype

vision/eye phenotype

Genotype: Prph2Rd2/Prph2+either: C.O20-Prph2 or C3.O20-Prph2

nervous system phenotype

vision/eye phenotype

Genotype: Prph2Rd2/Prph2Rd2involves: BALB/c * O20/A

vision/eye phenotype

Genotype: Prph2Rd2/Prph2+involves: O20/A

nervous system phenotype

vision/eye phenotype

Genotype: Prph2Rd2/Prph2Rd2involves: O20/A

nervous system phenotype

vision/eye phenotype

Genotype: Prph2Rd2/Prph2+either: (involves: C3H * O20/A) or (involves: C57BL/LiA * O20/A)

nervous system phenotype

vision/eye phenotype

References

Additional References

Additional - Pde6b+ related

Additional - Prph2Rd2 related

Genotyping Protocols

Mating System

Appearance

Citation

Animal Health Reports

Live Mouse

Cryorecovery - Pricing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Prph2^Rd2

Allele Symbol: Prph2^Rd2

Pde6b⁺

Allele Symbol: Pde6b⁺

Genotype: Prph2^Rd2 related

Genotype: Pde6b⁺ related

Genotype: Prph2^Rd2/Prph2^Rd2
O20/A-Prph2

Genotype: Prph2^Rd2/Prph2⁺
either: (involves: BALB/c * O20/A) or (involves: GR/A * O20/A) or (involves: O20/A * STS/A)

Genotype: Prph2^Rd2/Prph2^Rd2
either: C.O20-Prph2 or C3.O20-Prph2

Genotype: Prph2^Rd2/Prph2⁺
either: C.O20-Prph2 or C3.O20-Prph2

Genotype: Prph2^Rd2/Prph2^Rd2
involves: BALB/c * O20/A

Genotype: Prph2^Rd2/Prph2⁺
involves: O20/A

Genotype: Prph2^Rd2/Prph2^Rd2
involves: O20/A

Genotype: Prph2^Rd2/Prph2⁺
either: (involves: C3H * O20/A) or (involves: C57BL/LiA * O20/A)

Additional - Pde6b⁺ related

Additional - Prph2^Rd2 related