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Allele Symbol Allele Name Allele ID |
Prph2Rd2 retinal degeneration 2 MGI:1856523 |
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| Summary |
11 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 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
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• at 9 months, the outer nuclear layer is reduced to 2 to 3 rows
• at 18 months, no recognizable outer nuclear layer is seen
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• 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
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice exhibit 8 or 9 rows of photoreceptor nuclei at 1 month and 3 or 4 rows at 4 months
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• at 4 months, a small-amplitude b-wave is recorded
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• widespread yellow flecks are seen in the fundus at P180
• however, no changes in retinal vasculature are seen at P180
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• photoreceptor degeneration is severe by P180
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• 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
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• absent scotopic a-wave amplitude
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• scotopic b wave amplitude is reduced at P30 and P180
• photopic b wave amplitude is reduced at P30 and P180
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• photopic ERG responses are lower
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• scotopic responses are reduced at P30 and P180, with no mice exhibiting an a-wave above the limit of detection
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• photoreceptor degeneration is severe by P180
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• thin with distorted structure at 12 months of age
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• extensive vascularization at 12 months of age
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• at 12 months of age the pigment epithelium appears patchy with normal appearing areas adjacent to areas lacking pigment epithelial cells
(J:6432)
• phagosomes containing debris from the outer nuclear layer are absent
(J:25582)
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• decrease in growth of retinal thickness from P7 onwards
• morphological differences from controls are clearly recognizable by P14
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• at 9 months of age in some areas the outermost row of the inner nuclear layer has merged with the outer nuclear layer
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• maximal thickness is detected on P7 compared to P11 in wild-type controls
• 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
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• progressive reduction in thickness of the ONL starting at P14
(J:6432)
• at 2 months of age thickness is reduced by about 50%
(J:6432)
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• 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
(J:6051)
• degeneration of the outer nuclear cell (ONL) layer is seen as early as 2 weeks of age
(J:75095)
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• detectable at P28 and slowly progresses with age
• thinning is more conspicuous in peripheral areas at P28
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• retarded growth of the photoreceptor layer is visible from P7 onwards
• growth continues until P21 but by P28 a reduction in photoreceptor layer thickness is seen
• at 9 months of age in some areas this layer is absent
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• 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
• at 12 months of age, all visual cell structures are gone
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• at 7-10 months rods are absent
(J:6051)
• at 12 months of age
(J:6432)
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• retinal photoreceptor cells lack outer segments
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• the layer of rod outer segments fails to develop
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• 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
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• at 12 months of age
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• slight degenerative changes are seen in the outer nuclear layer starting at 5 weeks
(J:6051)
• degeneration slowly progresses until at 7-10 months rods are absent and the photoreceptor cell nuclei are reduced to 1 row
(J:6051)
• detectable at P14 as a decrease in the thickness of the outer nuclear layer
(J:6432)
• by 28 days of age thinning of the photoreceptor and outer plexiform layers is seen
(J:6432)
• at 9 months of age extensive areas of the retina completely lack visual cells
(J:6432)
• at 12 months of age, all visual cell structures are gone and degenerative changes are observed in other layers of the retina
(J:6432)
• at 18-24 months of age continuing degeneration results in further distortion and thinning of the retina
(J:6432)
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• observed at 12 months of age
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• 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
• 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
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• at P11 macrophages in the retina remain large and display high levels of glucosaminidase activity
• 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
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• 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
• at 12 months of age, all visual cell structures are gone
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• at 7-10 months rods are absent
(J:6051)
• at 12 months of age
(J:6432)
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• retinal photoreceptor cells lack outer segments
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• the layer of rod outer segments fails to develop
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• the percentage of cones in the periphery further increases up until 6 months of age
• at 2 months of age the percentage of cones is higher in the periphery compared to wild-type controls
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• at 12 months of age
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• at 12 months of age the pigment epithelium appears patchy with normal appearing areas adjacent to areas lacking pigment epithelial cells
(J:6432)
• phagosomes containing debris from the outer nuclear layer are absent
(J:25582)
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• extensive vascularization at 12 months of age
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• at P11 macrophages in the retina remain large and display high levels of glucosaminidase activity
• 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
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 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
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• at 16 months, the outer nuclear layer is reduced to 3 to 4 rows
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• 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
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at P14, considerable portions of the retinal surface have fewer outer segments and those present have disc structures that are irregularly oriented
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• at 18 months, some photoreceptor synaptic terminals have multiple synaptic ribbons
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• 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
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• occasional inner segments with swollen endoplasmic reticuli and vacuoles
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• 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
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• 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
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• 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
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• at 18 months, some photoreceptor synaptic terminals have multiple synaptic ribbons
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• 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
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• occasional inner segments with swollen endoplasmic reticuli and vacuoles
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• 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
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• 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
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| retinitis pigmentosa 7 | DOID:0110383 |
OMIM:608133 |
J:25582 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 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
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• 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
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 2/10 eyes exhibit very mild signs of flecking in the fundus at P180
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• highly abnormal membrane swirls in the outer segment
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• outer segment layers are thinner
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• the outer nuclear layer is thinner by P180 but not at P30
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• scotopic a wave amplitude is reduced at P30 and P180
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• scotopic b wave amplitude is reduced at P30 and P180
• however, phototopic b wave amplitudes are similar to wild-type mice at P30
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• scotopic ERG responses are reduced at P30 and P180
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• highly abnormal membrane swirls in the outer segment
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• outer segment layers are thinner
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• increase in density of Muller cells and fibers is intermediate compared to the single homozygotes
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• remaining photoreceptor cells lack outer segments
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• the rate of photoreceptor loss is slower than in Pde6brd1 single homozygotes
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• increase in density of Muller cells and fibers is intermediate compared to the single homozygotes
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• remaining photoreceptor cells lack outer segments
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• the rate of photoreceptor loss is slower than in Pde6brd1 single homozygotes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice exhibit a lesser degeneration than in Pde6brd1 homozygotes
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 05/07/2024 MGI 6.23 |
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