Analysis Tools|
Allele Symbol Allele Name Allele ID |
Pde6brd1 retinal degeneration 1 MGI:1856373 |
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| Summary |
32 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 |
Retinal degeneration in Pde6brd1/Pde6brd1, and Pde6brd1/Pde6brd1 Cry1tm1Asn/Cry1tm1Asn Cry2tm1Asn/Cry2tm1Asn mouse retinas
| N |
• despite the absence of rods, mice exhibit normal photopotentiation (defined as a 50% augmentation in pupillary light response (PLR) compared to pre-bright light PLR during a one minute dim blue light exposure after bright light exposure)
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• nearly complete absence of outer nuclear layer
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• entire outer retina is destroyed, however the inner retina remains intact
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| retinitis pigmentosa 40 | DOID:0110375 |
OMIM:613801 |
J:140115 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• nascent outer segments and rod cells degenerate rapidly by day 15 after birth and have disappeared by day 35
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• nascent outer segments and rod cells degenerate rapidly by day 15 after birth and have disappeared by day 35
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• by P14 a large increase in the number of Muller cells with radial fibers throughout the entire retina including the outer nuclear layer is seen
• by P21 large numbers of Muller cells occur throughout the retina but radial fibers do not have branches in the inner plexiform or nuclear layers
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• by P21 the outer nuclear layer consists of only 1 or 2 rows of nuclei
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• by P21 thickness of the retina is decreased
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• by P14 a large increase in the number of Muller cells with radial fibers throughout the entire retina including the outer nuclear layer is seen
• by P21 large numbers of Muller cells occur throughout the retina but radial fibers do not have branches in the inner plexiform or nuclear layers
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• pale at 3.5 weeks of age
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• patchy, pigmented appearance at 3.5 weeks of age
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• pale at 3.5 weeks of age
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• only a single layer of cells is present at 3.5 weeks of age
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• degeneration is accelerated compared to mice homozygous for Pde6batrd2
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• fail to respond in a visual tracking drum assay at 3.5, 6 and 10 weeks of age
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| retinitis pigmentosa 40 | DOID:0110375 |
OMIM:613801 |
J:101336 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mean venous diameter is decreased in 3- and 12-week-old mice
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• mean arterial diameter is decreased in 3- and 12-week-old mice
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• decrease in thickness
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• decrease in thickness
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• 12-week-old mice show thinning of the retinal layer, with a decrease in both the outer and inner retinal cell layer thickness
• however, inner nuclear layer thickness is not different
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• total retinal blood flow, rate of oxygen delivery from retinal circulation, and rate of oxygen extraction from the retinal circulation for metabolism are lower, however oxygen extraction fraction is not different
• total retinal blood flow and rate of oxygen delivery from retinal circulation are lower at 3 weeks of age compared to 12 weeks of age
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• mean venous diameter is decreased in 3- and 12-week-old mice
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• mean arterial diameter is decreased in 3- and 12-week-old mice
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| retinal degeneration | DOID:8466 | J:322017 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• substantial loss of constriction in response to light
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• substantial loss of constriction in response to light
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| congenital stationary night blindness autosomal dominant 2 | DOID:0110863 |
OMIM:163500 |
J:24999 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| congenital stationary night blindness autosomal dominant 2 | DOID:0110863 |
OMIM:163500 |
J:75964 | |
|
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• patches of pigmented cells are seen at 3.5 weeks of age
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• progressive loss of cell layers
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• slow onset of degeneration; the visual tracking response persists until several weeks of age in contrast to Pde6brd1 homozygous mice
(J:75964)
• patches of pigmented cells are seen at 3.5 weeks of age
(J:101336)
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• at 3.5 weeks of age, no mice respond to a 2 degree grating and 40% respond to a 4 degree grating in a visual tracking drum assay
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| congenital stationary night blindness autosomal dominant 2 | DOID:0110863 |
OMIM:163500 |
J:75964 | |
| retinitis pigmentosa 40 | DOID:0110375 |
OMIM:613801 |
J:101336 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• patches of pigmented cells are seen at 3.5 weeks of age
|
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• slow onset of degeneration; the visual tracking response persists until several weeks of age in contrast to Pde6brd1 homozygous mice
(J:75964)
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• at 3.5 weeks of age, no mice respond to a 2 degree grating in a visual tracking drum assay
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| congenital stationary night blindness autosomal dominant 2 | DOID:0110863 |
OMIM:163500 |
J:75964 | |
| retinitis pigmentosa 40 | DOID:0110375 |
OMIM:613801 |
J:101336 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• slow onset of degeneration; the visual tracking response persists until several weeks of age in contrast to Pde6brd1 homozygous mice
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| congenital stationary night blindness autosomal dominant 2 | DOID:0110863 |
OMIM:163500 |
J:75964 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| congenital stationary night blindness autosomal dominant 2 | DOID:0110863 |
OMIM:163500 |
J:75964 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| congenital stationary night blindness autosomal dominant 2 | DOID:0110863 |
OMIM:163500 |
J:75964 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| congenital stationary night blindness autosomal dominant 2 | DOID:0110863 |
OMIM:163500 |
J:75964 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at 8 weeks of age, complex heterozygotes for these two mutations exhibit retinal degeneration that ophthalmoscopically resembles that of mice homozygous for Pde6brd1
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• by 6 months of age in all homozygotes
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• by one month of age a bilateral star-shaped fundus pattern is visible by indirect ophthalmoscopy due to retinal detachment along retinal blood vessels, and this pattern disappears when the mouse is held upside down
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• by 6 months of age in all homozygotes
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• by 6 months of age in all homozygotes
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• by 6 months of age in all homozygotes
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• by 6 months of age in all homozygotes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• by 3 months of age
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• indirect ophthalmoscopy shows a bilateral star-shaped fundus pattern by 1 month of age indicative of retinal detachment
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• by 1 month of age
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• by 3 months of age
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice exhibit a normal proportion of bipolar cells to Muller cells during postnatal development
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• change in width
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• mice exhibit light ears
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• mice exhibit light ears
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• mice exhibit light ears
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• mice exhibit light ears
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• mice exhibit light ears
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• platelets show impaired alpha granule content release in response to low-dose thrombin stimulation
• agonist-dependent lysosome release in platelets is impaired
• stimulation with a low dose of thrombin elicits a mutated release of lysosomal enzymes from platelets
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• mice exhibit abnormal thrombus formation during laser-induced blood vessel damage, with total platelet accumulation severely attenuated
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• platelets show impaired alpha granule content release in response to low-dose thrombin stimulation
• agonist-dependent lysosome release in platelets is impaired
• stimulation with a low dose of thrombin elicits a mutated release of lysosomal enzymes from platelets
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• mice exhibit abnormal thrombus formation during laser-induced blood vessel damage, with total platelet accumulation severely attenuated
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Hermansky-Pudlak syndrome 4 | DOID:0060542 |
OMIM:614073 |
J:221384 | |
|
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• retinas exhibit normal photoentrainment to white light, photosensitivity to violet light and corneal photoentrainment
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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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• retinas begin to degenerate within 9 days after birth
• GFP expression can clearly be seen as the retinas degenerate
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice exhibit a degeneration of the photoreceptor layer similar to in Pde6gtm1Goff or Pde6brd1 homozygotes
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• mice exhibit diminished a and b wave components compared to wild type mice with a delay in the b wave implicit time
• diminished eye electrophysiological response worsens with age
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• substantial loss of constriction in response to light
• response is similar to that in mice homozygous for Pde6brd1 alone
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• substantial loss of constriction in response to light
• response is similar to that in mice homozygous for Pde6brd1 alone
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|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• substantial loss of constriction in response to light
• response is similar to that in mice homozygous for Pde6brd1 alone
|
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• substantial loss of constriction in response to light
• response is similar to that in mice homozygous for Pde6brd1 alone
|
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|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Retinal degeneration in Pde6brd1/Pde6brd1, and Pde6brd1/Pde6brd1 Cry1tm1Asn/Cry1tm1Asn Cry2tm1Asn/Cry2tm1Asn mouse retinas
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• almost no pupillary reflex in blue light (470-nm)
• some pupillary movement in very bright light, but sluggish
• sensitivity to blue light is about 5% that of mice homozygous for Pde6brd1 only
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• arrhythmic circadian rhythms for locomotor activity in constant darkness
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• arrhythmic circadian rhythms for locomotor activity in light/dark cycles
• mutants accumulate nearly 40% of their total daily activity during the first 10 hours of the light portion of light-dark 12:12 compared with only 10% of activity during this same period seen with controls, indicating a residual photoresponsiveness in mutants
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• almost no pupillary reflex in blue light (470-nm)
• some pupillary movement in very bright light, but sluggish
• sensitivity to blue light is about 5% that of mice homozygous for Pde6brd1 only
|
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• most cones are absent
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• nearly complete absence of the outer nuclear layer
|
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• the entire outer retina is destroyed, however the inner retina remains intact
|
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• most cones are absent
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• loss of 60% to 90% of rod population despite the absence of CASP3
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• outer nuclear layer slightly thicker than with normal CASP3 expression
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• slight reduction in rate of loss of photoreceptors relative to rd1 homozygotes with normal CASP3 expression
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• loss of 60% to 90% of rod population despite the absence of CASP3
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• pupilary reflex is abolished
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• mice lose their ability to photo-entrain their circadian rhythm and mice maintain equal activity during light and dark phases unlike in wild-type mice
|
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• pupilary reflex is abolished
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• progressive loss of photoreceptor cell bodies
• increased apoptotic cell death at 21 days of age
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• degeneration of photoreceptors occurs but is delayed at P16, P18, and P21 compared to homozygous Pde6b mutants
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• progressive thinning of the outer nuclear layer
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• the OPL appears disorganized
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• the OPL appears thinner than wild-type and other controls
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• mutant mice show decreased sensitivity to light
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• the b-wave of mutant mice is reduced in amplitude at all flash intensities; the a-wave appears similar to controls
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• cone ERGs of mutant mice are smaller in amplitude and negative in polarity
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• progressive loss of photoreceptor cell bodies
• increased apoptotic cell death at 21 days of age
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• degeneration of photoreceptors occurs but is delayed at P16, P18, and P21 compared to homozygous Pde6b mutants
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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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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• the outer retina is lost
• however, melanopsin-containing cells are present and normally distributed
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• mice lack immunoreactivity for any of the three photoreceptor types
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• transneuronal degeneration results in thinning and regional loss of the inner nuclear layer (INL)
• by 9 months of age only the retinal ganglion layer could be detected in many areas
• the INL never reaches more than 3 to 4 cells deep compared to wild-type INL that are 6 cells deep
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• mice lack an outer nuclear layer
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| N |
• despite the lack of ability to detect light in their retina, mice maintain normal circadian rhythms
(J:128149)
• despite the lack of ability to detect light in their retina, mice maintain normal circadian rhythms
(J:128478)
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• mice lack immunoreactivity for any of the three photoreceptor types
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice lacking both functional rods and cones are trained to distinguish a bright signal from a dark signal using a water maze
• mice distinguish between targets differing by as little as 13X in radiance
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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 11/19/2024 MGI 6.24 |
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