Mouse Genome Informatics
cn1
    Pou4f1tm1Nat/Pou4f1tm2.1Nat
Tg(Pax6-cre,GFP)2Pgr/0

involves: 129 * 129S7/SvEvBrd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• 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

vision/eye
• 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


Mouse Genome Informatics
cn2
    Ahi1tm1Jgg/Ahi1tm2.1Jgg
Tg(Pax6-cre,GFP)2Pgr/0

involves: 129 * C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye


Mouse Genome Informatics
cn3
    E2f2tm1Zubi/E2f2tm1Zubi
Rbl1tm1Htr/Rbl1tm1Htr
Tg(Pax6-cre,GFP)2Pgr/?

involves: 129 * C57BL/6 * FVB/N * NMRI
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
• 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

nervous system
• 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


Mouse Genome Informatics
cn4
    E2f1tm1Meg/E2f1+
Rbl1tm1Htr/Rbl1tm1Htr
Tg(Pax6-cre,GFP)2Pgr/?

involves: 129 * C57BL/6 * FVB/N * NMRI
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
• ectopic retinal transition cell division observed in Rbl1 null mice is partially suppressed


Mouse Genome Informatics
cn5
    E2f1tm1Meg/E2f1tm1Meg
Rbl1tm1Htr/Rbl1tm1Htr
Tg(Pax6-cre,GFP)2Pgr/?

involves: 129 * C57BL/6 * FVB/N * NMRI
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
• 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
• the retinal outer nuclear layer is slightly reduced in thickness at P18 or P30
• photopic response is very slightly reduced

nervous system
• 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


Mouse Genome Informatics
cn6
    E2f3tm1.1Gle/E2f3tm1.1Gle
Rbl1tm1Htr/Rbl1tm1Htr
Tg(Pax6-cre,GFP)2Pgr/?

involves: 129 * C57BL/6 * FVB/N * NMRI
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
• 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
• retinal transition cells (RTC) undergo ectopic cell divisions
• however, markers of starburst amacrine cell differentiation are restored

nervous system
• 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


Mouse Genome Informatics
cn7
    E2f1tm1Meg/E2f1tm1Meg
E2f3tm1.1Gle/E2f3tm1.1Gle
Rbl1tm1Htr/Rbl1tm1Htr
Tg(Pax6-cre,GFP)2Pgr/?

involves: 129 * C57BL/6 * FVB/N * NMRI
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
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 (J:124204)


Mouse Genome Informatics
cn8
    Rbl1tm1Htr/Rbl1tm1Htr
Tg(Pax6-cre,GFP)2Pgr/?

involves: 129 * C57BL/6 * FVB/N * NMRI
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
• 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
• 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

nervous system
• 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


Mouse Genome Informatics
cn9
    Ahi1tm1Jgg/Ahi1tm2.1Jgg
Nphp1tm1Jgg/Nphp1+
Tg(Pax6-cre,GFP)2Pgr/0

involves: 129 * C57BL/6 * FVB/N * NMRI
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye


Mouse Genome Informatics
cn10
    Atrxtm1Rjg/Y
Tg(Pax6-cre,GFP)2Pgr/0

involves: 129P2/OlaHsd * C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
• pericellular varicosities in the retina are significantly reduced compared to in wild-type mice indicating a disturbance in the dopaminergic network (J:145002)
• between P10 and P17, mice exhibit a loss of amacrine cells (J:145002)
• adult mice exhibit a 34% reduction in the number of amacrine cells found in the peripheral retina compared to in wild-type mice (J:145002)
• mice exhibit a reduction in the number of multiple subtypes of amacrine neurons compared to in wild-type mice (J:145002)
• however, embryonic development of amacrine cells is normal (J:145002)
• loss of horizontal cells after P5 (J:145002)
• adult mice exhibit a 37% decrease in horizontal cells compared to in wild-type retinas (J:145002)
• cellularity is reduced 15% while the number of ganglion cells is normal (J:145002)
• cellularity is reduced 25% with the numbers of Muller, bipolar and photoreceptor cells are normal (J:145002)
• the b-wave is reduced 30% at the five highest light intensities tested compared to in wild-type mice (J:145002)
• oscillatory potentials are reduced in amplitude at multiple light intensities compared to in wild-type mice (J:145002)
• however, the a-wave is normal (J:145002)

nervous system
• between P10 and P17, mice exhibit a loss of amacrine cells (J:145002)
• adult mice exhibit a 34% reduction in the number of amacrine cells found in the peripheral retina compared to in wild-type mice (J:145002)
• mice exhibit a reduction in the number of multiple subtypes of amacrine neurons compared to in wild-type mice (J:145002)
• however, embryonic development of amacrine cells is normal (J:145002)
• loss of horizontal cells after P5 (J:145002)
• adult mice exhibit a 37% decrease in horizontal cells compared to in wild-type retinas (J:145002)


Mouse Genome Informatics
cn11
    Sox2tm1Lpev/Sox2tm2Lpev
Tg(Pax6-cre,GFP)2Pgr/?

involves: 129S/SvEv
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
• a further reduction in eye size at E14.5 compared to Sox2tm1Lpev/Sox2tm3Lpev or Sox2tm1Lpev/Sox2tm4Lpev hypomorphs


Mouse Genome Informatics
cn12
    Sox2tm2Lpev/Sox2tm2Lpev
Tg(Pax6-cre,GFP)2Pgr/?

involves: 129S/SvEv
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
• the loss of general retinal progenitor cell characteristics as determined by retinal differentiation makers
• 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


Mouse Genome Informatics
cn13
    Sox2tm2Lpev/Sox2tm2.1Lpev
Tg(Pax6-cre,GFP)2Pgr/?

involves: 129S/SvEv
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
• 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


Mouse Genome Informatics
cn14
    Gt(ROSA)26Sortm1(GAP43)Gld/Gt(ROSA)26Sor+
Ngfrtm1Klee/Ngfrtm1Klee
Tg(Pax6-cre,GFP)2Pgr/0

involves: 129S1/Sv
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• 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

vision/eye
N
• retinal development, size, and patterning are normal (J:145459)
• the nasal domain of retinal axon termination zone is expanded anteriorly compared to in wild-type mice


Mouse Genome Informatics
cn15
    Pax6tm2Pgr/Pax6+
Tg(Pax6-cre,GFP)2Pgr/0

involves: 129S1/Sv * 129X1/SvJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
N
• mice exhibit no defects in the iridocorneal angle, trabecular meshwork and Schlemm's canal (J:163191)
• the stroma of the iris is thinner


Mouse Genome Informatics
cn16
    Dscamtm1Pfu/Dscamtm1Pfu
Tg(Pax6-cre,GFP)2Pgr/0

involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
• 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

nervous system
• 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

cellular
• of retinal dopaminergic and bNOS positive amacrine cell neurites


Mouse Genome Informatics
cn17
    Igs1tm11(CAG-Bgeo,-Edn2)Nat/Igs1+
Tg(Pax6-cre,GFP)2Pgr/0

involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
• 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
• in the peripheral retina
• in the peripheral retina
• in the peripheral retina

homeostasis/metabolism
• in the peripheral retina

cardiovascular system
• 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


Mouse Genome Informatics
cn18
    Ednrbtm1.1Nat/Ednrbtm1.2Nat
Igs1tm11(CAG-Bgeo,-Edn2)Nat/Igs1+
Tg(Pax6-cre,GFP)2Pgr/0

involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
• removal of Ednrb appears to sensitize the vasculature as growth arrests proximal to the front of cre-mediated recombination

cardiovascular system
• removal of Ednrb appears to sensitize the vasculature as growth arrests proximal to the front of cre-mediated recombination


Mouse Genome Informatics
cn19
    Rb1tm3Tyj/Rb1tm3Tyj
Rbl1tm1Tyj/Rbl1tm1Tyj
Tg(Pax6-cre,GFP)2Pgr/0

involves: 129S2/SvPas * 129X1/SvJ * C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
tumorigenesis
• 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

vision/eye
• 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
OMIM IDRef(s)
Retinoblastoma; RB1 180200 J:119919


Mouse Genome Informatics
cn20
    Pcdhgtm2Xzw/Pcdhgtm2Xzw
Tg(Pax6-cre,GFP)2Pgr/0

involves: 129S7/SvEvBrd * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
N
• despite the reduction in several retinal cell types, the numbers of horizontal cells, photoreceptors and synapses in the inner plexiform layer are normal (J:142186)
• 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

nervous system
• 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


Mouse Genome Informatics
cn21
    Rb1tm3Tyj/Rb1tm3Tyj
Rbl2tm2.1Tyj/Rbl2tm2.1Tyj
Tg(Pax6-cre,GFP)2Pgr/0

involves: 129X1/SvJ * C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• mice are moribund by 183 +/- 39 days

tumorigenesis
• 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)

vision/eye
• 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
• 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
• increase in horizontal cells in contrast to the general hypocellularity of the retina
• rod bipolar cells are very rare or absent from retinas and retinoblastomas
• 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

nervous system
• 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
• increase in horizontal cells in contrast to the general hypocellularity of the retina
• rod bipolar cells are very rare or absent from retinas and retinoblastomas

cellular
• 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
OMIM IDRef(s)
Retinoblastoma; RB1 180200 J:119919


Mouse Genome Informatics
cn22
    Rb1tm3Tyj/Rb1tm3Tyj
Tg(Pax6-cre,GFP)2Pgr/0

involves: 129X1/SvJ * C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
• 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

cellular
• increased apoptosis is seen


Mouse Genome Informatics
cn23
    Rb1tm3Tyj/Rb1tm3Tyj
Tg(Pax6-cre,GFP)2Pgr/0

Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
• 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

nervous system
• in the retina at 3 weeks of age
• at E18.5, in the retinal ganglion cell layer

cellular
• extensive at P4 and P12


Mouse Genome Informatics
cx24
    Pou4f2tm1Nat/Pou4f2tm2.1Nat
Tg(Pax6-cre,GFP)2Pgr/?

involves: 129S7/SvEvBrd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
• 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

nervous system
• 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