|
Allele Symbol Allele Name Allele ID |
Tg(Pax6-cre,GFP)2Pgr transgene insertion 2, Peter Gruss MGI:3052661 |
| Summary |
35 genotypes |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• some arteriovenous crossings is observed
|
|
• some arteriovenous crossings is observed
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• the ratio of bistratified:monostratified retinal ganglion cells (RGC) increases from 0.22 in controls to 1.5 in these mice
• there is an absence of RGC dendrites in a narrow stripe of the inner plexiform layer (IPL) that coincides with the boundary between the ON and OFF RGC subtypes
• this gap in RGC dendrites is evident at P4 before the IPL has completely differentiated
|
|
• the ratio of bistratified:monostratified retinal ganglion cells (RGC) increases from 0.22 in controls to 1.5 in these mice
• there is an absence of RGC dendrites in a narrow stripe of the inner plexiform layer (IPL) that coincides with the boundary between the ON and OFF RGC subtypes
• this gap in RGC dendrites is evident at P4 before the IPL has completely differentiated
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• ectopic retinal transition cell division observed in Rbl1 null mice is partially suppressed
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• Slc18a3 staining of mature starburst amacrine cells (SACs) is absent from the peripheral retina
• however, retinal transition cell division, rod cell numbers, retinal differentiation and rod function are normal
|
|
• mice have slightly fewer ganglion cells at P0
|
|
• starburst amacrine cells (SACs) have defects in differentiation not associated with cell cycle or apoptosis
• only 1 Calb2+ SAC track is detectable instead of 3 normally detected in the inner plexiform layer
• Slc18a3 staining of mature SACs is absent from the peripheral retina
• 3.7% of Camk2a+ SAC express Chat and Slc18a3 compared to 60% in wild-type mice, 5.6% in Rbl1 null mice and 91% in Rbl1 and E2f3 null mice
|
|
• mice have slightly fewer bipolar cells at P18 or P30
• however, the proportion of bipolar cells is normal
|
|
• only 1 Calb2+ starburst amacrine cell track is detectable instead of 3 normally detected in the inner plexiform layer
|
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• the retinal outer nuclear layer is slightly reduced in thickness at P18 or P30
|
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• photopic response is very slightly reduced
|
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• mice have slightly fewer ganglion cells at P0
|
|
• starburst amacrine cells (SACs) have defects in differentiation not associated with cell cycle or apoptosis
• only 1 Calb2+ SAC track is detectable instead of 3 normally detected in the inner plexiform layer
• Slc18a3 staining of mature SACs is absent from the peripheral retina
• 3.7% of Camk2a+ SAC express Chat and Slc18a3 compared to 60% in wild-type mice, 5.6% in Rbl1 null mice and 91% in Rbl1 and E2f3 null mice
|
|
• mice have slightly fewer bipolar cells at P18 or P30
• however, the proportion of bipolar cells is normal
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• apoptosis eliminates most retinal ganglion cells
|
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• apoptosis eliminates many rod cells
|
|
• while present, starburst amacrine cell (SAC) tracks are slightly disordered due to a lack of synaptic partner cells
• however, markers of SAC differentiation are restored
• 91% of Camk2a+ SAC express Chat and Slc18a3 compared to 60% in wild-type mice, 5.6% in Rbl1 null mice and 3.7% in Rb/E2f1 null mice due to the presence of Camk2a+ ganglion cells that would normally be killed by apoptosis
|
|
• apoptosis eliminates most bipolar cells
|
|
• retinal transition cells (RTC) undergo ectopic cell divisions
• however, markers of starburst amacrine cell differentiation are restored
|
|
• apoptosis eliminates most retinal ganglion cells
|
|
• apoptosis eliminates many rod cells
|
|
• while present, starburst amacrine cell (SAC) tracks are slightly disordered due to a lack of synaptic partner cells
• however, markers of SAC differentiation are restored
• 91% of Camk2a+ SAC express Chat and Slc18a3 compared to 60% in wild-type mice, 5.6% in Rbl1 null mice and 3.7% in Rb/E2f1 null mice due to the presence of Camk2a+ ganglion cells that would normally be killed by apoptosis
|
|
• apoptosis eliminates most bipolar cells
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• bipolar and ganglion cell death, starburst amacrine cell (SAC) differentiation, and SAC track disorder observed in Rbl1 null, Rbl1/E2f3 null or Rbl1/E2f1 null mice are rescued
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• the optic nerve is thin due to the loss of retinal ganglion cells
|
|
• retinal transition (RTC) undergo ectopic DNA synthesis and increased apoptosis
• at P8 or P18 when cell division is completed in the wild-type retina, ectopic RTC divisions are detected
|
|
• Slc18a3 staining of mature starburst amacrine cells (SACs) is absent from the peripheral retina
|
|
• apoptosis eliminates most retinal ganglion cells
|
|
• apoptosis eliminates many rod cells
|
|
• starburst amacrine cells (SACs) have defects in differentiation not associated with cell cycle or apoptosis
• only 1 Calb2+ SAC track is detectable instead of 3 normally detected in the inner plexiform layer
• Slc18a3 staining of mature SACs is absent from the peripheral retina
• however, SAC survival and process outgrowth is normal
• as markers of differentiation are detected early in the cell body if at all, synthesis or stability and transport of SAC markers is defective
• 5.6% of Camk2+ SAC express Chat and Slc18a3 compared to 60% in wild-type mice, 3.7% in Rbl1/E2f1 null mice and 91% in Rbl1/E2f3 null mice
|
|
• apoptosis eliminates most bipolar cells
|
|
• after P8, mice exhibit a reduction in Callb2+ starburst amacrine ccell bodies, indicative of amacrine cells
|
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• only 1 Calb2+ starburst amacrine cell track is detectable instead of 3 normally detected in the inner plexiform layer
|
|
• the outer nuclear layer is thin due to the loss of rods
|
|
• light-adapted (photopic) response is defective
|
|
• the response to dim light in dark-adapted (scotopic) conditions is defective
|
|
• apoptosis eliminates most retinal ganglion cells
|
|
• apoptosis eliminates many rod cells
|
|
• starburst amacrine cells (SACs) have defects in differentiation not associated with cell cycle or apoptosis
• only 1 Calb2+ SAC track is detectable instead of 3 normally detected in the inner plexiform layer
• Slc18a3 staining of mature SACs is absent from the peripheral retina
• however, SAC survival and process outgrowth is normal
• as markers of differentiation are detected early in the cell body if at all, synthesis or stability and transport of SAC markers is defective
• 5.6% of Camk2+ SAC express Chat and Slc18a3 compared to 60% in wild-type mice, 3.7% in Rbl1/E2f1 null mice and 91% in Rbl1/E2f3 null mice
|
|
• apoptosis eliminates most bipolar cells
|
|
• the optic nerve is thin due to the loss of retinal ganglion cells
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• apoptosis eliminates most retinal ganglion cells as in Rbl1 null mice
|
|
• apoptosis eliminates many rod cells as in Rbl1 null mice
|
|
• apoptosis eliminates most bipolar cells as in Rbl1 null mice
|
|
• retinal transition cells (RTC) undergo ectopic cell divisions as in Rbl1 null mice
|
|
• apoptosis eliminates most retinal ganglion cells as in Rbl1 null mice
|
|
• apoptosis eliminates many rod cells as in Rbl1 null mice
|
|
• apoptosis eliminates most bipolar cells as in Rbl1 null mice
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• retinas show normal morphology, lamination, and an intact outer nuclear layer, and mice exhibit a normal optomotor response
• mice show rescue of the increased apoptosis seen in the retinas of single homozygous Atrip conditional mice
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice show impaired eye growth resulting in mild microphthalmia
|
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• retinas show rosette formation and ectopic deposits of laminin, a component of the basal lamina
|
|
• retinal progenitor cells accumulate DNA damage and undergo apoptosis during embryogenesis
• alteration in retinal progenitor cell proliferation is seen in late postnatal stages and neurogenesis is mildly disturbed
|
|
• severe disorganization of retinal lamination in postnatal stages
|
|
• extensive neuronal degeneration in the retina, particularly of photoreceptor neurons, leading to complete loss of the outer nuclear layer in the periphery of the retina
|
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• complete loss of the outer nuclear layer in the periphery of the retina
|
|
• a subtle increase in the proportion of mitotic and S-phase cells is seen in the retinas at P4, indicating a mild dysregulation of cell proliferation
• however, no difference in the proportion of mitotic cells is seen in the retinas at E17.5 or P2
|
|
• retinas show an increase in apoptosis at E17.5 and a modest increase at P2 and P4, but no changes at E12.5
|
|
• analysis of the optomotor response shows severe visual acuity impairment
|
|
• extensive neuronal degeneration in the retina, particularly of photoreceptor neurons, leading to complete loss of the outer nuclear layer in the periphery of the retina
|
|
• retinas show an increase in apoptosis at E17.5 and a modest increase at P2 and P4, but no changes at E12.5
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Seckel syndrome | DOID:0050569 |
OMIM:PS210600 |
J:297493 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
 |
• pericellular varicosities in the retina are significantly reduced compared to in wild-type mice indicating a disturbance in the dopaminergic network
|
|
|
• between P10 and P17, mice exhibit a loss of amacrine cells
• adult mice exhibit a 34% reduction in the number of amacrine cells found in the peripheral retina compared to in wild-type mice
• mice exhibit a reduction in the number of multiple subtypes of amacrine neurons compared to in wild-type mice
• however, embryonic development of amacrine cells is normal
|
|
|
• loss of horizontal cells after P5
• adult mice exhibit a 37% decrease in horizontal cells compared to in wild-type retinas
|
|
|
• cellularity is reduced 15% while the number of ganglion cells is normal
|
|
|
• cellularity is reduced 25% with the numbers of Muller, bipolar and photoreceptor cells are normal
|
|
|
• the b-wave is reduced 30% at the five highest light intensities tested compared to in wild-type mice
• oscillatory potentials are reduced in amplitude at multiple light intensities compared to in wild-type mice
• however, the a-wave is normal
|
|
|
• between P10 and P17, mice exhibit a loss of amacrine cells
• adult mice exhibit a 34% reduction in the number of amacrine cells found in the peripheral retina compared to in wild-type mice
• mice exhibit a reduction in the number of multiple subtypes of amacrine neurons compared to in wild-type mice
• however, embryonic development of amacrine cells is normal
|
|
|
• loss of horizontal cells after P5
• adult mice exhibit a 37% decrease in horizontal cells compared to in wild-type retinas
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| alpha thalassemia-X-linked intellectual disability syndrome | DOID:0110030 |
OMIM:301040 |
J:145002 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• the nasal domain of retinal axon termination zone is expanded anteriorly compared to in wild-type mice
|
|
• the nasal domain of retinal axon termination zone is expanded anteriorly compared to in wild-type mice
|
| N |
• retinal development, size, and patterning are normal
|
|
• the nasal domain of retinal axon termination zone is expanded anteriorly compared to in wild-type mice
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• some arteriovenous crossings is observed
• however, mice do not exhibit early vertical vascular branching in the retina observed in Kdrtm2.1Jrt/Kdrtm2.1Jrt Tg(Pax6-cre,GFP)2Pgr mice
|
|
• some arteriovenous crossings is observed
• however, mice do not exhibit early vertical vascular branching in the retina observed in Kdrtm2.1Jrt/Kdrtm2.1Jrt Tg(Pax6-cre,GFP)2Pgr mice
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• abnormal superficial plexus as in Dnm1tm2.1Pdc/Dnm1tm2.1Pdc Dnm2tm1.1Pdc/Dnm2tm1.1Pdc Tg(Pax6-cre,GFP)2Pgr mice
• however, no misdirected angiogenesis is detected
|
|
• abnormal superficial plexus as in Dnm1tm2.1Pdc/Dnm1tm2.1Pdc Dnm2tm1.1Pdc/Dnm2tm1.1Pdc Tg(Pax6-cre,GFP)2Pgr mice
• however, no misdirected angiogenesis is detected
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• ragged and caved edges in vascular fronts with persistent hyaloid vessels and slight delay in radial growth in the retina
• at P6, mice show abundant vertical branching into the neuroblastic layers unlike in control mice
• misdirected vascular growth
• at P9, deep and intermediate plexuses have already formed unlike in control mice
• at P28, mice exhibit increased vessel branching in intermediate and deep plexuses compared with control mice
• mice exhibit decreased regenerative angiogenesis that does not progress to deep layers with abnormal vessels growing into intra-capillary spaces compared with control mice
• however, no additional angiogenesis is observed
|
| N |
• retinas exhibit normal neuronal thickness, morphology, proliferation and survival and vertical sprouts extend between normal ganglion cells
|
|
• ragged and caved edges in vascular fronts with persistent hyaloid vessels and slight delay in radial growth in the retina
• at P6, mice show abundant vertical branching into the neuroblastic layers unlike in control mice
• misdirected vascular growth
• at P9, deep and intermediate plexuses have already formed unlike in control mice
• at P28, mice exhibit increased vessel branching in intermediate and deep plexuses compared with control mice
• mice exhibit decreased regenerative angiogenesis that does not progress to deep layers with abnormal vessels growing into intra-capillary spaces compared with control mice
• however, no additional angiogenesis is observed
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice exhibit no defects in the iridocorneal angle, trabecular meshwork and Schlemm's canal
|
|
• the stroma of the iris is thinner
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• no misdirected angiogenesis is detected in the retina
|
| N |
• no misdirected angiogenesis is detected in the retina
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• removal of Ednrb appears to sensitize the vasculature as growth arrests proximal to the front of cre-mediated recombination
|
|
• removal of Ednrb appears to sensitize the vasculature as growth arrests proximal to the front of cre-mediated recombination
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Spatially localized Edn2 expression results in local inhibition of retinal vascular development in Igs1tm11(CAG-Bgeo,-Edn2)Nat/Igs1+ Tg(Pax6-cre,GFP)2Pgr/0 mice
|
• regional thinning of all three layers in the peripheral retina
|
|
• intraretinal capillaries are rarely seen in the peripheral retina
• numerous filopodia-bearing endothelial cells are seen at the boundary between the vascularized central retina and the nearly avascular peripheral retina
|
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• in the peripheral retina
|
|
• in the peripheral retina
|
|
• in the peripheral retina
|
|
• intraretinal capillaries are rarely seen in the peripheral retina
• numerous filopodia-bearing endothelial cells are seen at the boundary between the vascularized central retina and the nearly avascular peripheral retina
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• dopaminergic amacrine cells and neurites are clumped
• disorganization is seen in all portions of the inner nuclear layer, even where cre is inactive
• cholinergic amacrine cell lamination is impaired in portions of the retina where cre is active in all retinal neurons
|
|
• melanopsin-positive RGCs are fasciculated and aggregated in the peripheral retina, but not in the central or dorsal retina
|
|
• of retinal dopaminergic and bNOS positive amacrine cell neurites
|
|
• dopaminergic amacrine cells and neurites are clumped
• disorganization is seen in all portions of the inner nuclear layer, even where cre is inactive
• cholinergic amacrine cell lamination is impaired in portions of the retina where cre is active in all retinal neurons
|
|
• melanopsin-positive RGCs are fasciculated and aggregated in the peripheral retina, but not in the central or dorsal retina
|
|
• of retinal dopaminergic and bNOS positive amacrine cell neurites
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• superficial plexus is more severely impaired than in Kdrtm2.1Jrt/Kdrtm2.1Jrt Tg(Pax6-cre,GFP)2Pgr mice
|
|
• superficial plexus is more severely impaired than in Kdrtm2.1Jrt/Kdrtm2.1Jrt Tg(Pax6-cre,GFP)2Pgr mice
|
|
• insufficient separation of the inner and outer nuclear layers with fewer Pax6+ cells
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• in 61% of mice visible unilateral retinoblastoma develop with delayed and variable kinetics appearing on average by 208 +/- 17 days relative to mice lacking Rbl2
• unlike mice lacking Rbl2, bilateral visible retinoblastomas are rare
• however, 3 of 11 retinas from mice with unilateral tumors in the opposite eye contain early retinoblastomas with mitotic figures and Homer-Wright rosettes
• at P60 4 of 14 eyes have retinoblastomas at level of the optic nerve head in the extreme periphery of the retina
|
|
• in 61% of mice visible unilateral retinoblastoma develop with delayed and variable kinetics appearing on average by 208 +/- 17 days relative to mice lacking Rbl2
• unlike mice lacking Rbl2, bilateral visible retinoblastomas are rare
• however, 3 of 11 retinas from mice with unilateral tumors in the opposite eye contain early retinoblastomas with mitotic figures and Homer-Wright rosettes
• at P60 4 of 14 eyes have retinoblastomas at level of the optic nerve head in the extreme periphery of the retina
|
|
• in 11 of 11 mice with unilateral tumors, the retina in the tumor free eye is disorganized and degenerated
• at P31 6 of 24 retinas have dysplastic lesions containing Homer-Wright rosettes at the level of the optic nerve in the extreme periphery and increased proliferation in the periphery without histological evidence of retinoblastoma
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| retinoblastoma | DOID:768 |
OMIM:180200 |
J:119919 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• extensive at P4 and P12
|
|
• ectopic S-phase and mitotic activity are detected unlike in wild-type mice throughout the entire retina
|
|
• at E18.5, in the retinal ganglion cell layer
|
|
• some inner cell layer cells are very large and of horizontal cell lineage
|
|
• disorganized
|
|
• at E18.5, in the retinal ganglion cell layer
|
|
• extensive at P4 and P12
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• early vertical branching from primary vascular plexuses in the retina
|
|
• early vertical branching from primary vascular plexuses in the retina
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice are moribund by 183 +/- 39 days
|
|
• visible bilateral retinoblastoma develop with rapid and consistent kinetics appearing on average at 128 +/- 18 days
• amacrine cells, a subset of progenitor cells, and Muller cells are present in tumors
• at P31 (4 animals) and P60 (3 animals) large tumors are present and all mice have retinoblastomas in each eye that seed the vitreous and anterior chamber by 4 months of age
• by 183 +/- 39 days mice have grossly distended eyes where the tumor has filled the anterior chambers and often invaded of local tissues
• tumors infiltrate the optic nerve and metastases are found in the cervical lymph nodes (11 of 28) and brain (7 of 27)
|
|
• at P12, apoptosis is increased and at P21 retinas contain apoptotic bodies
• the increase in apoptosis is greater than in mutant mice wild-type for Rbl2
|
|
• visible bilateral retinoblastoma develop with rapid and consistent kinetics appearing on average at 128 +/- 18 days
• amacrine cells, a subset of progenitor cells, and Muller cells are present in tumors
• at P31 (4 animals) and P60 (3 animals) large tumors are present and all mice have retinoblastomas in each eye that seed the vitreous and anterior chamber by 4 months of age
• by 183 +/- 39 days mice have grossly distended eyes where the tumor has filled the anterior chambers and often invaded of local tissues
• tumors infiltrate the optic nerve and metastases are found in the cervical lymph nodes (11 of 28) and brain (7 of 27)
|
|
• at P12 in the retinal periphery proliferation and apoptosis are increased and proliferation remains elevated at P21,especially in the extreme periphery
• proliferation is increased and prolonged relative to mutant mice wild-type for Rbl2
• at P21 retinas are very hypocellular, contain apoptotic bodies and many cells with large and/or irregular-shaped nuclei, and 9 of 12 have early dysplatic lesions containing Homer-Wright rosettes in the extreme periphery
|
|
• at P21, the amacrine layer is significantly reduced away from tumor areas
|
|
• rod bipolar cells are very rare or absent from retinas and retinoblastomas
|
|
• increase in horizontal cells in contrast to the general hypocellularity of the retina
|
|
• at P21, the three nuclear layers can not be distinguished, except in the central retina where Cre expression is reduced
|
|
• Tuji-positive retinal ganglion cells are very rare or completely absent from retinas and tumors
|
|
• a cone subset (positive for M-opsin) is very rare or absent from retinas and retinoblastomas
|
|
• despite the increase in proliferation retinas are very hypoplastic at P21
|
|
• Tuji-positive retinal ganglion cells are very rare or completely absent from retinas and tumors
|
|
• a cone subset (positive for M-opsin) is very rare or absent from retinas and retinoblastomas
|
|
• at P21, the amacrine layer is significantly reduced away from tumor areas
|
|
• rod bipolar cells are very rare or absent from retinas and retinoblastomas
|
|
• increase in horizontal cells in contrast to the general hypocellularity of the retina
|
|
• at P12, apoptosis is increased and at P21 retinas contain apoptotic bodies
• the increase in apoptosis is greater than in mutant mice wild-type for Rbl2
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| retinoblastoma | DOID:768 |
OMIM:180200 |
J:119919 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• increased apoptosis is seen
|
|
• at P12 extensive cell proliferation occurs
• however, by P21 proliferation is no longer detected unlike in mice that also lack Rbl2
|
|
• increased apoptosis is seen
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• retinal ganglion cells (RGC) have larger surface area and thick arbors
• some RGC axons follow aberrant trajectories, bifurcate within the retina or give rise to dendrite-like branches that ramify within the inner plexiform data
• a small percentage of RGC lack axons
• RGC cell body is more likely to reside in the inner nuclear layer (INL) than in the ganglion cell layer (GCL)
• the ratio of INL:GCL cell bodies is 178:105 compared with 9:147 for controls
• these misplaced RGC display morphological characteristics of glycinergic amacrine cells
• projections from the RGC are deficient to the olivary pretectal nucleus, the pretectal area and adjacent nucleus of the optic tract
• projections to the lateral and medial terminal nuclei are eliminated and the accessory optic tract is missing
|
|
• 70% of retinal ganglion cells are not present
|
|
• large decrements in RGC projections occur to the nucleus adjacent to the optic tract compared to controls
• the accessory optic tract is missing
• numerous neurites emerge at P4 from the optic tract and penetrate nearby nontarget areas
|
|
• large decrements in RGC projections occur to this part of the brain compared to controls
|
|
• large decrements in RGC projections occur to this part of the brain compared to controls
|
|
• retinal ganglion cells (RGC) have larger surface area and thick arbors
• some RGC axons follow aberrant trajectories, bifurcate within the retina or give rise to dendrite-like branches that ramify within the inner plexiform data
• a small percentage of RGC lack axons
• RGC cell body is more likely to reside in the inner nuclear layer (INL) than in the ganglion cell layer (GCL)
• the ratio of INL:GCL cell bodies is 178:105 compared with 9:147 for controls
• these misplaced RGC display morphological characteristics of glycinergic amacrine cells
• projections from the RGC are deficient to the olivary pretectal nucleus, the pretectal area and adjacent nucleus of the optic tract
• projections to the lateral and medial terminal nuclei are eliminated and the accessory optic tract is missing
|
|
• 70% of retinal ganglion cells are not present
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• despite the reduction in several retinal cell types, the numbers of horizontal cells, photoreceptors and synapses in the inner plexiform layer are normal
|
|
• the numbers of Muller glial cells is decreased 20% compared to in wild-type mice
|
|
• the numbers of bipolar, amacrine and retinal ganglion cells are decreased 45% to 65% compared to in wild-type mice
• the number of Pax6-amacrine cells in the central retina is reduced 58% compared to in wild-type mice
|
|
• the numbers of bipolar, amacrine and retinal ganglion cells are decreased 45% to 65% compared to in wild-type mice
• mice exhibit a 15% loss of Pou4f1+ retinal ganglion cells from the central retina compared to in wild-type mice
|
|
• the numbers of bipolar, amacrine and retinal ganglion cells are decreased 45% to 65% compared to in wild-type mice
|
|
• the numbers of Muller glial cells is decreased 20% compared to in wild-type mice
|
|
• the numbers of bipolar, amacrine and retinal ganglion cells are decreased 45% to 65% compared to in wild-type mice
• the number of Pax6-amacrine cells in the central retina is reduced 58% compared to in wild-type mice
|
|
• the numbers of bipolar, amacrine and retinal ganglion cells are decreased 45% to 65% compared to in wild-type mice
• mice exhibit a 15% loss of Pou4f1+ retinal ganglion cells from the central retina compared to in wild-type mice
|
|
• the numbers of bipolar, amacrine and retinal ganglion cells are decreased 45% to 65% compared to in wild-type mice
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• At 14 days of age the inner retina is thinner than normal in both cellular and synaptic layers, but neurite stratification is not disorganized
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E13.5, retinas are significantly smaller than Sox2tm2Lpev Tg(Pax6-cre,GFP)2Pgr heterozygotes
• retinal proliferation is reduced and differentiation marked by Math5, NeuroD, and beta-TubulinIII staining is absent
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• a further reduction in eye size at E14.5 compared to Sox2tm1Lpev/Sox2tm3Lpev or Sox2tm1Lpev/Sox2tm4Lpev hypomorphs
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• the loss of general retinal progenitor cell characteristics as determined by retinal differentiation makers
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• retinas are significantly smaller in size compared with Sox2tm2Lpev/Sox2+ with a transgene control
note: marked reduction of cell proliferation in the distal retina by E13.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• expanded amacrine cell population in distal retinal layers in adult retinal sections
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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 04/23/2024 MGI 6.23 |
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