Phenotypes associated with this allele
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Macf1tm1Efu mutation
(1 available);
any
Macf1 mutation
(853 available)
Tg(rx3-icre)1Mjam mutation
(0 available)
|
|
|
vision/eye
|
|
• 6 week old mice show retinal dysplasia predominately affecting the outer retina with disruption of retinal lamination
|
|
|
• inner segments are lost
|
|
|
• outer segments are lost
|
|
|
• mice show decreased ERG a- and b-waves under dark-adapted conditions
• mice show severely decreased response to a 10-Hz flicker test
|
|
|
• amplitude of dark adapted a-wave is decreased
|
|
|
• amplitudes of dark adapted and light adapted b-wave are decreased
|
nervous system
|
|
• slightly enlarged ventricles at 3 months
|
|
|
• inner segments are lost
|
|
|
• outer segments are lost
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nr2f1tm2.1Mjts mutation
(1 available);
any
Nr2f1 mutation
(24 available)
Tg(rx3-icre)1Mjam mutation
(0 available)
|
|
|
vision/eye
|
N |
• no gross defects in eye development are detected
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf2tm2Gth mutation
(3 available);
any
Nf2 mutation
(65 available)
Tg(rx3-icre)1Mjam mutation
(0 available)
|
|
|
vision/eye
|
|
• in all subdivisions of the ventral optic cup
|
|
|
• increased cell numbers in the ventral optic cup
• ectopic retinal pigment epithelium in the dorsal optic cup
|
|
|
• with less advanced alignment of margins and increased cellular height particularly in the temporal optic fissure
|
|
|
• failure of optic fissure fusion during the final process of closing persisting into later stages
|
|
|
• increased ventral retinal pigmented epithelium proliferation
|
craniofacial
growth/size/body
digestive/alimentary system
pigmentation
|
|
• in all subdivisions of the ventral optic cup
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mpp3tm1.1Wij mutation
(0 available);
any
Mpp3 mutation
(44 available)
Tg(rx3-icre)1Mjam mutation
(0 available)
|
|
|
vision/eye
|
|
• no histological abnormalities at 2 months of age
|
|
|
• occasional ingression of photoreceptors at 2 months
|
|
|
• defects observed at 6 months along with vascular abnormalities
• occasional ectopic photo receptors between the outer limiting membrane and the retinal pigment epithelium
• thinning of outer limiting membrane and integrity disrupted at 6 and 12 months
• 6 month old mice exposed to 3000 lux white light for 72 hours develop foci of cells in the space between the outer limiting membrane and the retinal pigment layer
• integrity of outer limiting membrane is disrupted in 6 month old mice by exposure to 3000 lux white light for 72 hours
|
|
|
• occasional retinal degeneration and rosettes at 3 months of age
• degeneration detected at 6 months of age
• morphological defects are more distinct at 12 months
|
|
|
• increased in 6 month old mice exposed to 3000 lux white light for 72 hours
• massive gliosis when exposed to light
|
|
|
• both scotopic and photopic retinography varies from normal to mildly subnormal depending on the extent of morphological abnormalities
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
|
|
|
vision/eye
|
|
• at 1 and 3 months of age, ocular fundus exhibit sites of cellular mislocalization and roundish structures in the outer plexiform layer unlike wild-type mice
• at 6 and 12 months of age, the ocular fundus has spotty and patchy areas with vascular leakage unlike in wild-type mice
|
|
|
• at P10, retinal basal infoldings are disorganization and vacuoles are increased in number and size compared with wild-type mice
• mice exhibit a stronger phenotype than in Tg(Chx10-EGFP/cre,-ALPP)2Clc Tg(RNU6-RNAi:Mpp5)13Wij mice
|
|
|
• bipolar cells are ectopically localized in the outer nuclear layer
• at 3, 6, and 12 months, mice exhibit loss of photoreceptors and bipolar cells due to apoptosis compared with wild-type mice
|
|
|
• the apical microvilli of the retinal pigment epithelium are either absent or shorter and did not interdigitate with the outer segments of photoreceptor cells compared to in wild-type mice
|
|
|
• from P10 to P30, mice exhibit folds between the retinal outer and inner layers (ONL and INL) and retinal outer plexiform layer (OPL), half rosettes of photoreceptors in the ONL and OPL, and ectopic photoreceptor nuclei in the subretinal space unlike wild-type mice
|
|
|
• ectopically localized in the subretinal space or outer plexiform layer
|
|
|
• in the cone outer segments at P30
|
|
|
• at 3, 6, and 12 months, mice exhibit loss of photoreceptors and bipolar cells due to apoptosis compared with wild-type mice
|
|
|
• progressively thinner in aged mice
|
|
|
• progressively thinner in aged mice
|
|
|
• with roundish structures at 1 and 3 months
|
|
|
• with gaps and irregularities
|
|
|
• mice exhibit reduced scotopic and photopic responses and lowered a- and b-wave amplitudes compared with wild-type mice
|
|
|
• mice exhibit reduced photopic response compared with wild-type mice
|
|
|
• mice exhibit reduced scotopic response compared with wild-type mice
|
nervous system
|
|
• at P10, mice exhibit persistent apoptosis of photoreceptors and bipolar cells unlike wild-type mice
• at P18, mice exhibit increased apoptosis in the outer and inner nuclear layer compared with wild-type mice
• at 3, 6, and 12 months, mice exhibit loss of photoreceptors and bipolar cells due to apoptosis compared with wild-type mice
|
|
|
• bipolar cells are ectopically localized in the outer nuclear layer
• at 3, 6, and 12 months, mice exhibit loss of photoreceptors and bipolar cells due to apoptosis compared with wild-type mice
|
|
|
• ectopically localized in the subretinal space or outer plexiform layer
|
|
|
• in the cone outer segments at P30
|
|
|
• at 3, 6, and 12 months, mice exhibit loss of photoreceptors and bipolar cells due to apoptosis compared with wild-type mice
|
cardiovascular system
|
|
• vascular leakage in the ocular fundus at 6 and 12 months of age
|
cellular
|
|
• at P10, mice exhibit persistent apoptosis of photoreceptors and bipolar cells unlike wild-type mice
• at P18, mice exhibit increased apoptosis in the outer and inner nuclear layer compared with wild-type mice
• at 3, 6, and 12 months, mice exhibit loss of photoreceptors and bipolar cells due to apoptosis compared with wild-type mice
|
pigmentation
|
|
• the apical microvilli of the retinal pigment epithelium are either absent or shorter and did not interdigitate with the outer segments of photoreceptor cells compared to in wild-type mice
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myrftm1Barr mutation
(1 available);
any
Myrf mutation
(100 available)
Tg(rx3-icre)1Mjam mutation
(0 available)
|
|
|
vision/eye
|
|
• by P22, especially overlying depigmented areas
|
|
|
• especially overlying depigmented areas
|
|
|
• patchy loss of pigmentation as early as E15.5
|
|
|
• especially overlying depigmented areas
|
|
|
• reduced peak flicker amplitude
|
|
|
• reduced a- and b-wave amplitudes
|
nervous system
|
|
• by P22, especially overlying depigmented areas
|
|
|
• especially overlying depigmented areas
|
pigmentation
|
|
• patchy loss of pigmentation as early as E15.5
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myrftm1Barr mutation
(1 available);
any
Myrf mutation
(100 available)
Tg(rx3-icre)1Mjam mutation
(0 available)
|
|
|
vision/eye
|
|
• late onset; less severe than in mice homozygous for the conditional allele
|
pigmentation
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myrftm1.1Barr mutation
(0 available);
any
Myrf mutation
(100 available)
Myrftm1Barr mutation
(1 available);
any
Myrf mutation
(100 available)
Tg(rx3-icre)1Mjam mutation
(0 available)
|
|
|
pigmentation
|
|
• patchy loss of pigmentation
|
vision/eye
|
|
• patchy loss of pigmentation
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Raxtm1.1Lwd mutation
(0 available);
any
Rax mutation
(16 available)
Tg(rx3-icre)1Mjam mutation
(0 available)
|
|
|
vision/eye
nervous system
|
N |
• ventral hypothalamus morphology is more normal than in homozygous null mice and some mice may survive for weeks or months
|
craniofacial
|
N |
• palate morphology is more normal than in homozygous null mice
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fzd4tm1Nat mutation
(1 available);
any
Fzd4 mutation
(29 available)
Fzd4tm2.1Nat mutation
(1 available);
any
Fzd4 mutation
(29 available)
Tg(rx3-icre)1Mjam mutation
(0 available)
|
|
|
vision/eye
|
|
• electroretinogram a wave is relatively normal
• electroretinogram b wave is markedly reduced
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Porcntm1.1Lcm mutation
(0 available);
any
Porcn mutation
(18 available)
Tg(rx3-icre)1Mjam mutation
(0 available)
|
|
|
vision/eye
 |
• moderate to mild loss of pigment in the dorsal retina pigmented epithelium
|
nervous system
craniofacial
pigmentation
|
|
• moderate to mild loss of pigment in the dorsal retina pigmented epithelium
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H2az2Tg(Wnt1-cre)11Rth mutation
(2 available);
any
H2az2 mutation
(26 available)
Porcntm1.1Lcm mutation
(0 available);
any
Porcn mutation
(18 available)
Tg(rx3-icre)1Mjam mutation
(0 available)
|
|
|
vision/eye
 |
• mild loss of pigment in the dorsal retina pigmented epithelium of most mice
|
|
|
• slightly in affected eyes
|
pigmentation
|
|
• mild loss of pigment in the dorsal retina pigmented epithelium of most mice
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H2az2Tg(Wnt1-cre)11Rth mutation
(2 available);
any
H2az2 mutation
(26 available)
Porcntm1.1Lcm mutation
(0 available);
any
Porcn mutation
(18 available)
Tg(rx3-icre)1Mjam mutation
(0 available)
|
|
|
craniofacial
|
|
• a mild, fully penetrant median cleft lip
|
vision/eye
|
|
• severe to mild loss of pigment in the dorsal retina pigmented epithelium
• transdifferentiation of dorsal and ventral RPE into retina without increased apoptosis
|
|
|
• due to reduced cell numbers
|
|
|
• open eyelids between E16.5 and E18.0 in all mice
|
nervous system
growth/size/body
|
|
• a mild, fully penetrant median cleft lip
|
digestive/alimentary system
pigmentation
|
|
• severe to mild loss of pigment in the dorsal retina pigmented epithelium
• transdifferentiation of dorsal and ventral RPE into retina without increased apoptosis
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd7tm1.1Dmm mutation
(1 available);
any
Chd7 mutation
(136 available)
Tg(rx3-icre)1Mjam mutation
(0 available)
|
|
|
vision/eye
|
|
• mice show full-depth colobomas at E12.5 with complete penetrance
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd7tm1.1Dmm mutation
(1 available);
any
Chd7 mutation
(136 available)
Tg(rx3-icre)1Mjam mutation
(0 available)
|
|
|
vision/eye
|
|
• lens structures are either very small or not apparent
|
|
|
• eye morphogenesis is severely disrupted at E12.5
|
|
|
• phenotypes range from highly dysmorphic optic cups in moderately affected eyes to complete absence of discernable optic cup structures in severely affected eyes
|
|
|
• severely affected eyes show complete absence of discernable optic cup structures
|
|
|
• mice show full-depth colobomas at E12.5 with complete penetrance
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nr2f2tm2.1Tsa mutation
(0 available);
any
Nr2f2 mutation
(27 available)
Tg(rx3-icre)1Mjam mutation
(0 available)
|
|
|
vision/eye
|
N |
• no gross defects in eye development are detected
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nr2f1tm2.1Mjts mutation
(1 available);
any
Nr2f1 mutation
(24 available)
Nr2f2tm2.1Tsa mutation
(0 available);
any
Nr2f2 mutation
(27 available)
Tg(rx3-icre)1Mjam mutation
(0 available)
|
|
|
vision/eye
|
|
• bilaterally open optic fissure at E14.5
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nr2f1tm2.1Mjts mutation
(1 available);
any
Nr2f1 mutation
(24 available)
Nr2f2tm2.1Tsa mutation
(0 available);
any
Nr2f2 mutation
(27 available)
Tg(rx3-icre)1Mjam mutation
(0 available)
|
|
|
vision/eye
|
|
• at E11.5 and E14.5 expression analysis indicates that proximo-ventral cells in the presumptive retinal pigment epithelium possess neural retinal identity
• however, nasal-dorsal cells retain their retinal pigment epithelium identity
|
|
|
• at E11.5 expression analysis indicates that progenitor cells in the distal ventral optic stalk gain a neural retinal identity
• at E14.5 a neural retina like structure connects directly with the diencephalon
• at E14.5 expression analysis indicates that proximo-ventral cells in the presumptive retinal pigment epithelium possess neural retinal identity
|
|
|
• at E10.5 the optic stalk resembles the early (E9.5) optic vesicle
• at E12.5 and E14.5 the optic stalk is open ventrally
• the ventral optic stalk is not detected by morphology at E14.5
• however, expression analysis indicates optic stalk identity is maintained but that the boundary between the stalk and neural retina is shifted proximally
• expression analysis indicates that differentiation of dorsal optic stalk cells is impaired
|
|
|
• severe at E14.5
• at E12.5 and E14.5 the optic stalk is open ventrally
|
|
|
• seen at E14.5 and persists through birth
|
nervous system
pigmentation
|
|
• at E11.5 and E14.5 expression analysis indicates that proximo-ventral cells in the presumptive retinal pigment epithelium possess neural retinal identity
• however, nasal-dorsal cells retain their retinal pigment epithelium identity
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nr2f1tm2.1Mjts mutation
(1 available);
any
Nr2f1 mutation
(24 available)
Nr2f2tm2.1Tsa mutation
(0 available);
any
Nr2f2 mutation
(27 available)
Tg(rx3-icre)1Mjam mutation
(0 available)
|
|
|
vision/eye
|
|
• bilaterally open optic fissure at E14.5
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pals1tm1Caw mutation
(0 available);
any
Pals1 mutation
(36 available)
Tg(rx3-icre)1Mjam mutation
(0 available)
|
|
|
vision/eye
|
|
• mice exhibit lamination defects and pseudorossette formation unlike in control mice
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pals1tm1Caw mutation
(0 available);
any
Pals1 mutation
(36 available)
Tg(rx3-icre)1Mjam mutation
(0 available)
|
|
|
vision/eye
|
|
• moderately increased apoptosis in the retina at E15.5, E17.5 (8-fold), P0 (3.5-fold) and P35
|
|
|
• at E17.5, retinal folds are more frequent and prominent compared to in control mice
• at E17.5, retinal exhibit variable thickness unlike in control mice
• at P0, retina exhibit more regular pseudorossettes with mature shape unlike in control mice
• at P14, retinal lamina is locally thinner and severely disorganized compared to in control mice
|
|
|
• during early postnatal stages and progressively worsening at later stages
|
|
|
• thin and disorganized at P0
|
|
|
• less regular appearance compared to in control mice
• locally extruded towards the retinal pigment epithelium side
|
|
|
• completely absent in severely affected adult mice
|
|
|
• at P35 and P60, the photoreceptor layer is either partially or completely devoid unlike in control mice
|
|
|
• some photoreceptors lack both inner and outer segments
|
|
|
• in some mice at P14 and P60
|
|
|
• in some mice at P14 and P60
|
|
|
• cells are reduced in size and are rounded unlike in control cells
|
|
|
• in some mice at P14 and P60
|
|
|
• in some mice at P14 and P60
|
|
|
• pseudorossettes of abnormal rod aggregations contain short and distorted outer and inner segments
|
|
|
• during early postnatal stages and progressively worsening at later stages
|
|
|
• discontinuous and disrupted
|
|
|
• during early postnatal stages and progressively worsening at later stages, mice exhibit degeneration of retinal cells in the photoreceptor, inner nuclear and ganglion cell layers unlike in control mice
|
|
|
• at E17.5, retinal folds are more frequent and prominent compared to in control mice
|
|
|
• at P35, mice exhibit severely reduced electroretinograms compared with control mice
|
|
|
• at P60, mice exhibit reduced or almost undetectable a- and b-waves compared with control mice
|
cellular
|
|
• moderately increased apoptosis in the retina at E15.5, E17.5 (8-fold), P0 (3.5-fold) and P35
|
|
|
• at E15.5 and E17.5, retinas exhibit a disorganized pattern of proliferating cells unlike in control mice
|
|
|
• slightly in the retina at E17.5
|
immune system
|
|
• in the retina at P21, P35 and P60
|
nervous system
|
|
• in the retina at P21, P35 and P60
|
|
|
• in the retina at P21, P35 and P60
|
|
|
• during early postnatal stages and progressively worsening at later stages
|
|
|
• some photoreceptors lack both inner and outer segments
|
|
|
• in some mice at P14 and P60
|
|
|
• in some mice at P14 and P60
|
|
|
• cells are reduced in size and are rounded unlike in control cells
|
|
|
• in some mice at P14 and P60
|
|
|
• in some mice at P14 and P60
|
|
|
• pseudorossettes of abnormal rod aggregations contain short and distorted outer and inner segments
|
|
|
• during early postnatal stages and progressively worsening at later stages
|
hematopoietic system
|
|
• in the retina at P21, P35 and P60
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pias3tm1.2Asw mutation
(0 available);
any
Pias3 mutation
(39 available)
Tg(rx3-icre)1Mjam mutation
(0 available)
|
|
|
vision/eye
|
|
• M-cone response to green light flashes in light-adapted P21 mice as measured with ERG was significantly reduced and remained reduced till at least 12 months old
• S-cone response to UV light flashes in light-adapted mice as measured with ERG started reducing from 7 months old
|
|
|
• response to a- and b-waves in dark-adapted mice as measured with ERG started reducing from 7 months old
|
Analysis Tools