Phenotypes associated with this allele

• Allele Symbol: Tg(rx3-icre)1Mjam
• Allele Name: transgene insertion 1, Milan Jamrich
• Allele ID: MGI:3665330
• Summary: 22 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Macf1^tm1Efu/Macf1^tm1Efu Tg(rx3-icre)1Mjam/0	involves: 129	MGI:6383934
cn2	Nr2f1^tm2.1Mjts/Nr2f1^tm2.1Mjts Tg(rx3-icre)1Mjam/0	involves: 129	MGI:4439070
cn3	Nf2^tm2Gth/Nf2^tm2Gth Tg(rx3-icre)1Mjam/0	involves: 129P2/OlaHsd	MGI:7261162
cn4	Mpp3^tm1.1Wij/Mpp3^tm1.1Wij Tg(rx3-icre)1Mjam/0	involves: 129P2/OlaHsd * C57BL/6 * C57BL/6JOlaHsd * FVB/N	MGI:5529776
cn5	Tg(RNU6-RNAi:Mpp5)13Wij/0 Tg(rx3-icre)1Mjam/0	involves: 129P2/OlaHsd * C57BL/6 * FVB/N	MGI:5297939
cn6	Myrf^tm1Barr/Myrf^tm1Barr Tg(rx3-icre)1Mjam/0	involves: 129P2/OlaHsd * C57BL/6J	MGI:6383123
cn7	Myrf^tm1Barr/Myrf^+ Tg(rx3-icre)1Mjam/0	involves: 129P2/OlaHsd * C57BL/6J	MGI:6383124
cn8	Myrf^tm1Barr/Myrf^tm1.1Barr Tg(rx3-icre)1Mjam/0	involves: 129P2/OlaHsd * C57BL/6J	MGI:6383125
cn9	Rax^tm1.1Lwd/Rax^tm1.1Lwd Tg(rx3-icre)1Mjam/0	involves: 129S1/Sv	MGI:3665332
cn10	Fzd4^tm1Nat/Fzd4^tm2.1Nat Tg(rx3-icre)1Mjam/?	involves: 129S1/Sv * 129X1/SvJ	MGI:4412190
cn11	Porcn^tm1.1Lcm/Y Tg(rx3-icre)1Mjam/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1	MGI:6368183
cn12	Porcn^tm1.1Lcm/Porcn^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Tg(rx3-icre)1Mjam/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J * CD-1	MGI:6368187
cn13	Porcn^tm1.1Lcm/Y H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Tg(rx3-icre)1Mjam/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J * CD-1	MGI:6368186
cn14	Chd7^tm1.1Dmm/Chd7^+ Tg(rx3-icre)1Mjam/0	involves: 129S6/SvEvTac	MGI:5774943
cn15	Chd7^tm1.1Dmm/Chd7^tm1.1Dmm Tg(rx3-icre)1Mjam/0	involves: 129S6/SvEvTac	MGI:5774845
cn16	Nr2f2^tm2.1Tsa/Nr2f2^tm2.1Tsa Tg(rx3-icre)1Mjam/0	involves: 129S7/SvEvBrd	MGI:4439071
cn17	Nr2f1^tm2.1Mjts/Nr2f1^+ Nr2f2^tm2.1Tsa/Nr2f2^tm2.1Tsa Tg(rx3-icre)1Mjam/0	involves: 129S7/SvEvBrd	MGI:4439073
cn18	Nr2f1^tm2.1Mjts/Nr2f1^tm2.1Mjts Nr2f2^tm2.1Tsa/Nr2f2^tm2.1Tsa Tg(rx3-icre)1Mjam/0	involves: 129S7/SvEvBrd	MGI:4439072
cn19	Nr2f1^tm2.1Mjts/Nr2f1^tm2.1Mjts Nr2f2^tm2.1Tsa/Nr2f2^+ Tg(rx3-icre)1Mjam/0	involves: 129S7/SvEvBrd	MGI:4439074
cn20	Pals1^tm1Caw/Pals1^+ Tg(rx3-icre)1Mjam/0	Not Specified	MGI:5428847
cn21	Pals1^tm1Caw/Pals1^tm1Caw Tg(rx3-icre)1Mjam/0	Not Specified	MGI:5428846
cx22	Pias3^tm1.2Asw/Pias3^tm1.2Asw Tg(rx3-icre)1Mjam/0	involves: C57BL/6J * SJL	MGI:5927698

Genotype
MGI:6383934

cn1

• Allelic Composition: Macf1^tm1Efu/Macf1^tm1Efu; Tg(rx3-icre)1Mjam/0
• Genetic Background: involves: 129

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

vision/eye

abnormal retina morphology ( J:240903 )

• 6 week old mice show retinal dysplasia predominately affecting the outer retina with disruption of retinal lamination

absent photoreceptor inner segment ( J:240903 )

• inner segments are lost

absent photoreceptor outer segment ( J:240903 )

• outer segments are lost

abnormal electroretinogram waveform feature ( J:240903 )

• mice show decreased ERG a- and b-waves under dark-adapted conditions

• mice show severely decreased response to a 10-Hz flicker test

decreased a-wave amplitude ( J:240903 )

• amplitude of dark adapted a-wave is decreased

decreased b-wave amplitude ( J:240903 )

• amplitudes of dark adapted and light adapted b-wave are decreased

nervous system

enlarged brain ventricles ( J:240903 )

• slightly enlarged ventricles at 3 months

absent photoreceptor inner segment ( J:240903 )

• inner segments are lost

absent photoreceptor outer segment ( J:240903 )

• outer segments are lost

Genotype
MGI:4439070

cn2

• Allelic Composition: Nr2f1^tm2.1Mjts/Nr2f1^tm2.1Mjts; Tg(rx3-icre)1Mjam/0
• Genetic Background: involves: 129

vision/eye

vision/eye phenotype ( J:157924 )

N • no gross defects in eye development are detected

Genotype
MGI:7261162

cn3

• Allelic Composition: Nf2^tm2Gth/Nf2^tm2Gth; Tg(rx3-icre)1Mjam/0
• Genetic Background: involves: 129P2/OlaHsd

vision/eye

retina pigment epithelium hyperplasia ( J:322987 )

• in all subdivisions of the ventral optic cup

failure of eyelid fusion ( J:322987 )

abnormal optic cup morphology ( J:322987 )

• increased cell numbers in the ventral optic cup

• ectopic retinal pigment epithelium in the dorsal optic cup

abnormal optic fissure morphology ( J:322987 )

• with less advanced alignment of margins and increased cellular height particularly in the temporal optic fissure

coloboma ( J:322987 )

• failure of optic fissure fusion during the final process of closing persisting into later stages

abnormal eye physiology ( J:322987 )

• increased ventral retinal pigmented epithelium proliferation

craniofacial

cleft upper lip ( J:322987 )

cleft palate ( J:322987 )

growth/size/body

cleft upper lip ( J:322987 )

cleft palate ( J:322987 )

digestive/alimentary system

cleft palate ( J:322987 )

pigmentation

retina pigment epithelium hyperplasia ( J:322987 )

• in all subdivisions of the ventral optic cup

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
coloboma		DOID:12270	OMIM:120200 OMIM:120300 OMIM:216820	J:322987

Genotype
MGI:5529776

cn4

• Allelic Composition: Mpp3^tm1.1Wij/Mpp3^tm1.1Wij; Tg(rx3-icre)1Mjam/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6JOlaHsd * FVB/N

vision/eye

abnormal retina morphology ( J:199562 )

• no histological abnormalities at 2 months of age

abnormal retina outer plexiform layer morphology ( J:199562 )

• occasional ingression of photoreceptors at 2 months

abnormal retina outer limiting membrane morphology ( J:199562 )

• 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

increased susceptibility to age-related retinal degeneration ( J:199562 )

• 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

retina degeneration ( J:199562 )

• increased in 6 month old mice exposed to 3000 lux white light for 72 hours

• massive gliosis when exposed to light

abnormal electroretinogram waveform feature ( J:199562 )

• both scotopic and photopic retinography varies from normal to mildly subnormal depending on the extent of morphological abnormalities

Genotype
MGI:5297939

cn5

• Allelic Composition: Tg(RNU6-RNAi:Mpp5)13Wij/0; Tg(rx3-icre)1Mjam/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

vision/eye

abnormal ocular fundus morphology ( J:178056 )

• 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

abnormal retina morphology ( J:178056 )

• 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

abnormal retina bipolar cell morphology ( J:178056 )

• 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

abnormal retina pigment epithelium morphology ( J:178056 )

• 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

abnormal retina neuronal layer morphology ( J:178056 )

• 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

abnormal retina photoreceptor morphology ( J:178056 )

• ectopically localized in the subretinal space or outer plexiform layer

short photoreceptor outer segment ( J:178056 )

• in the cone outer segments at P30

retina photoreceptor degeneration ( J:178056 )

• at 3, 6, and 12 months, mice exhibit loss of photoreceptors and bipolar cells due to apoptosis compared with wild-type mice

thin retina inner nuclear layer ( J:178056 )

• progressively thinner in aged mice

disorganized retina inner nuclear layer ( J:178056 )

• at P6

thin retina outer nuclear layer ( J:178056 )

• progressively thinner in aged mice

disorganized retina outer nuclear layer ( J:178056 )

• at P6

abnormal retina outer plexiform layer morphology ( J:178056 )

• with roundish structures at 1 and 3 months

disorganized retina outer plexiform layer ( J:178056 )

• at P6

disorganized retina layers ( J:178056 )

abnormal retina outer limiting membrane morphology ( J:178056 )

• with gaps and irregularities

retina degeneration ( J:178056 )

abnormal eye electrophysiology ( J:178056 )

• mice exhibit reduced scotopic and photopic responses and lowered a- and b-wave amplitudes compared with wild-type mice

abnormal cone electrophysiology ( J:178056 )

• mice exhibit reduced photopic response compared with wild-type mice

abnormal rod electrophysiology ( J:178056 )

• mice exhibit reduced scotopic response compared with wild-type mice

nervous system

increased neuron apoptosis ( J:178056 )

• 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

gliosis ( J:178056 )

abnormal retina bipolar cell morphology ( J:178056 )

• 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

abnormal retina photoreceptor morphology ( J:178056 )

• ectopically localized in the subretinal space or outer plexiform layer

short photoreceptor outer segment ( J:178056 )

• in the cone outer segments at P30

retina photoreceptor degeneration ( J:178056 )

• at 3, 6, and 12 months, mice exhibit loss of photoreceptors and bipolar cells due to apoptosis compared with wild-type mice

cardiovascular system

increased vascular permeability ( J:178056 )

• vascular leakage in the ocular fundus at 6 and 12 months of age

cellular

increased neuron apoptosis ( J:178056 )

• 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

abnormal retina pigment epithelium morphology ( J:178056 )

• 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

Genotype
MGI:6383123

cn6

• Allelic Composition: Myrf^tm1Barr/Myrf^tm1Barr; Tg(rx3-icre)1Mjam/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

vision/eye

decreased retina cone cell number ( J:275842 )

short photoreceptor inner segment ( J:275842 )

• by P22, especially overlying depigmented areas

short photoreceptor outer segment ( J:275842 )

• especially overlying depigmented areas

abnormal retina pigmentation ( J:275842 )

• patchy loss of pigmentation as early as E15.5

retina pigment epithelium atrophy ( J:275842 )

thin retina outer nuclear layer ( J:275842 )

• especially overlying depigmented areas

decreased total retina thickness ( J:275842 )

retina degeneration ( J:275842 )

abnormal cone electrophysiology ( J:275842 )

• reduced peak flicker amplitude

abnormal rod electrophysiology ( J:275842 )

• reduced a- and b-wave amplitudes

nervous system

decreased retina cone cell number ( J:275842 )

short photoreceptor inner segment ( J:275842 )

• by P22, especially overlying depigmented areas

short photoreceptor outer segment ( J:275842 )

• especially overlying depigmented areas

pigmentation

abnormal retina pigmentation ( J:275842 )

• patchy loss of pigmentation as early as E15.5

retina pigment epithelium atrophy ( J:275842 )

Genotype
MGI:6383124

cn7

• Allelic Composition: Myrf^tm1Barr/Myrf⁺; Tg(rx3-icre)1Mjam/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

vision/eye

retina pigment epithelium atrophy ( J:275842 )

retina degeneration ( J:275842 )

• late onset; less severe than in mice homozygous for the conditional allele

pigmentation

retina pigment epithelium atrophy ( J:275842 )

Genotype
MGI:6383125

cn8

• Allelic Composition: Myrf^tm1Barr/Myrf^tm1.1Barr; Tg(rx3-icre)1Mjam/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

pigmentation

abnormal retina pigmentation ( J:275842 )

• patchy loss of pigmentation

vision/eye

abnormal retina pigmentation ( J:275842 )

• patchy loss of pigmentation

Genotype
MGI:3665332

cn9

• Allelic Composition: Rax^tm1.1Lwd/Rax^tm1.1Lwd; Tg(rx3-icre)1Mjam/0
• Genetic Background: involves: 129S1/Sv

vision/eye

anophthalmia ( J:111944 )

nervous system

nervous system phenotype ( J:111944 )

N • ventral hypothalamus morphology is more normal than in homozygous null mice and some mice may survive for weeks or months

craniofacial

craniofacial phenotype ( J:111944 )

N • palate morphology is more normal than in homozygous null mice

Genotype
MGI:4412190

cn10

• Allelic Composition: Fzd4^tm1Nat/Fzd4^tm2.1Nat; Tg(rx3-icre)1Mjam/?
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

vision/eye

abnormal eye electrophysiology ( J:154020 )

• electroretinogram a wave is relatively normal

• electroretinogram b wave is markedly reduced

Genotype
MGI:6368183

cn11

• Allelic Composition: Porcn^tm1.1Lcm/Y; Tg(rx3-icre)1Mjam/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1

vision/eye

abnormal retina pigmentation ( J:218165 )

♂ • moderate to mild loss of pigment in the dorsal retina pigmented epithelium

coloboma ( J:218165 )

♂ • in most mice

nervous system

abnormal midbrain-hindbrain boundary morphology ( J:218165 )

♂ • in most mice

craniofacial

abnormal craniofacial morphology ( J:218165 )

♂ • in most mice

pigmentation

abnormal retina pigmentation ( J:218165 )

♂ • moderate to mild loss of pigment in the dorsal retina pigmented epithelium

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
focal dermal hypoplasia		DOID:2120	OMIM:305600	J:218165

Genotype
MGI:6368187

cn12

• Allelic Composition: Porcn^tm1.1Lcm/Porcn⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Tg(rx3-icre)1Mjam/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J * CD-1

vision/eye

abnormal retina pigmentation ( J:218165 )

♀ • mild loss of pigment in the dorsal retina pigmented epithelium of most mice

coloboma ( J:218165 )

♀ • in some mice

microphthalmia ( J:218165 )

♀ • slightly in affected eyes

pigmentation

abnormal retina pigmentation ( J:218165 )

♀ • mild loss of pigment in the dorsal retina pigmented epithelium of most mice

Genotype
MGI:6368186

cn13

• Allelic Composition: Porcn^tm1.1Lcm/Y; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Tg(rx3-icre)1Mjam/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J * CD-1

craniofacial

abnormal craniofacial morphology ( J:218165 )

♂

midline cleft upper lip ( J:218165 )

♂ • a mild, fully penetrant median cleft lip

cleft palate ( J:218165 )

♂

vision/eye

abnormal retina pigmentation ( J:218165 )

♂ • severe to mild loss of pigment in the dorsal retina pigmented epithelium

♂ • transdifferentiation of dorsal and ventral RPE into retina without increased apoptosis

abnormal anterior eye segment morphology ( J:218165 )

♂

iris hypoplasia ( J:218165 )

♂

decreased cornea thickness ( J:218165 )

♂ • due to reduced cell numbers

failure of eyelid fusion ( J:218165 )

♂ • open eyelids between E16.5 and E18.0 in all mice

coloboma ( J:218165 )

♂ • in most mice

nervous system

abnormal midbrain-hindbrain boundary morphology ( J:218165 )

♂

growth/size/body

midline cleft upper lip ( J:218165 )

♂ • a mild, fully penetrant median cleft lip

cleft palate ( J:218165 )

♂

digestive/alimentary system

cleft palate ( J:218165 )

♂

pigmentation

abnormal retina pigmentation ( J:218165 )

♂ • severe to mild loss of pigment in the dorsal retina pigmented epithelium

♂ • transdifferentiation of dorsal and ventral RPE into retina without increased apoptosis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
focal dermal hypoplasia		DOID:2120	OMIM:305600	J:218165

Genotype
MGI:5774943

cn14

• Allelic Composition: Chd7^tm1.1Dmm/Chd7⁺; Tg(rx3-icre)1Mjam/0
• Genetic Background: involves: 129S6/SvEvTac

vision/eye

coloboma ( J:231044 )

• mice show full-depth colobomas at E12.5 with complete penetrance

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
CHARGE syndrome		DOID:0050834	OMIM:214800	J:231044

Genotype
MGI:5774845

cn15

• Allelic Composition: Chd7^tm1.1Dmm/Chd7^tm1.1Dmm; Tg(rx3-icre)1Mjam/0
• Genetic Background: involves: 129S6/SvEvTac

vision/eye

small lens ( J:231044 )

• lens structures are either very small or not apparent

abnormal eye development ( J:231044 )

• eye morphogenesis is severely disrupted at E12.5

abnormal optic cup morphology ( J:231044 )

• phenotypes range from highly dysmorphic optic cups in moderately affected eyes to complete absence of discernable optic cup structures in severely affected eyes

absent optic cup ( J:231044 )

• severely affected eyes show complete absence of discernable optic cup structures

coloboma ( J:231044 )

• mice show full-depth colobomas at E12.5 with complete penetrance

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
CHARGE syndrome		DOID:0050834	OMIM:214800	J:231044

Genotype
MGI:4439071

cn16

• Allelic Composition: Nr2f2^tm2.1Tsa/Nr2f2^tm2.1Tsa; Tg(rx3-icre)1Mjam/0
• Genetic Background: involves: 129S7/SvEvBrd

vision/eye

vision/eye phenotype ( J:157924 )

N • no gross defects in eye development are detected

Genotype
MGI:4439073

cn17

• Allelic Composition: Nr2f1^tm2.1Mjts/Nr2f1⁺; Nr2f2^tm2.1Tsa/Nr2f2^tm2.1Tsa; Tg(rx3-icre)1Mjam/0
• Genetic Background: involves: 129S7/SvEvBrd

vision/eye

abnormal optic fissure closure ( J:157924 )

coloboma ( J:157924 )

• bilaterally open optic fissure at E14.5

Genotype
MGI:4439072

cn18

• Allelic Composition: Nr2f1^tm2.1Mjts/Nr2f1^tm2.1Mjts; Nr2f2^tm2.1Tsa/Nr2f2^tm2.1Tsa; Tg(rx3-icre)1Mjam/0
• Genetic Background: involves: 129S7/SvEvBrd

vision/eye

absent optic disk ( J:157924 )

• not detected at E14.5

abnormal retina pigment epithelium morphology ( J:157924 )

• 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

abnormal eye development ( J:157924 )

• 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

abnormal optic stalk morphology ( J:157924 )

• 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

coloboma ( J:157924 )

• severe at E14.5

• at E12.5 and E14.5 the optic stalk is open ventrally

microphthalmia ( J:157924 )

• seen at E14.5 and persists through birth

nervous system

absent optic disk ( J:157924 )

• not detected at E14.5

pigmentation

abnormal retina pigment epithelium morphology ( J:157924 )

• 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

Genotype
MGI:4439074

cn19

• Allelic Composition: Nr2f1^tm2.1Mjts/Nr2f1^tm2.1Mjts; Nr2f2^tm2.1Tsa/Nr2f2⁺; Tg(rx3-icre)1Mjam/0
• Genetic Background: involves: 129S7/SvEvBrd

vision/eye

abnormal optic fissure closure ( J:157924 )

coloboma ( J:157924 )

• bilaterally open optic fissure at E14.5

Genotype
MGI:5428847

cn20

• Allelic Composition: Pals1^tm1Caw/Pals1⁺; Tg(rx3-icre)1Mjam/0
• Genetic Background: Not Specified

vision/eye

abnormal retina morphology ( J:184469 )

• mice exhibit lamination defects and pseudorossette formation unlike in control mice

Genotype
MGI:5428846

cn21

• Allelic Composition: Pals1^tm1Caw/Pals1^tm1Caw; Tg(rx3-icre)1Mjam/0
• Genetic Background: Not Specified

vision/eye

increased retina apoptosis ( J:184469 )

• moderately increased apoptosis in the retina at E15.5, E17.5 (8-fold), P0 (3.5-fold) and P35

microphthalmia ( J:184469 )

• moderate-to-severe

abnormal retina morphology ( J:184469 )

• 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

retina ganglion cell degeneration ( J:184469 )

• during early postnatal stages and progressively worsening at later stages

disorganized retina ganglion layer ( J:184469 )

• at P0

thin retina ganglion layer ( J:184469 )

• at P0

abnormal retina inner plexiform layer morphology ( J:184469 )

• thin and disorganized at P0

thin retina inner plexiform layer ( J:184469 )

• at P0

abnormal retina outer nuclear layer morphology ( J:184469 )

• less regular appearance compared to in control mice

• locally extruded towards the retinal pigment epithelium side

thin retina outer nuclear layer ( J:184469 )

• at P60

disorganized retina outer nuclear layer ( J:184469 )

• at P60

retina outer nuclear layer degeneration ( J:184469 )

• completely absent in severely affected adult mice

abnormal retina photoreceptor layer morphology ( J:184469 )

• at P35 and P60, the photoreceptor layer is either partially or completely devoid unlike in control mice

abnormal retina photoreceptor morphology ( J:184469 )

• some photoreceptors lack both inner and outer segments

absent photoreceptor inner segment ( J:184469 )

• in some mice at P14 and P60

short photoreceptor inner segment ( J:184469 )

• in some mice at P14 and P60

abnormal photoreceptor outer segment morphology ( J:184469 )

• cells are reduced in size and are rounded unlike in control cells

absent photoreceptor outer segment ( J:184469 )

• in some mice at P14 and P60

short photoreceptor outer segment ( J:184469 )

• in some mice at P14 and P60

abnormal retina rod cell morphology ( J:184469 )

• pseudorossettes of abnormal rod aggregations contain short and distorted outer and inner segments

retina photoreceptor degeneration ( J:184469 )

• during early postnatal stages and progressively worsening at later stages

abnormal retina outer limiting membrane morphology ( J:184469 )

• discontinuous and disrupted

increased susceptibility to age-related retinal degeneration ( J:184469 )

• 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

retina fold ( J:184469 )

• at E17.5, retinal folds are more frequent and prominent compared to in control mice

abnormal eye electrophysiology ( J:184469 )

• at P35, mice exhibit severely reduced electroretinograms compared with control mice

abnormal rod electrophysiology ( J:184469 )

• at P60, mice exhibit reduced or almost undetectable a- and b-waves compared with control mice

cellular

increased retina apoptosis ( J:184469 )

• moderately increased apoptosis in the retina at E15.5, E17.5 (8-fold), P0 (3.5-fold) and P35

abnormal cell proliferation ( J:184469 )

• at E15.5 and E17.5, retinas exhibit a disorganized pattern of proliferating cells unlike in control mice

decreased cell proliferation ( J:184469 )

• slightly in the retina at E17.5

immune system

microgliosis ( J:184469 )

• in the retina at P21, P35 and P60

nervous system

microgliosis ( J:184469 )

• in the retina at P21, P35 and P60

astrocytosis ( J:184469 )

• in the retina at P21, P35 and P60

retina ganglion cell degeneration ( J:184469 )

• during early postnatal stages and progressively worsening at later stages

abnormal retina photoreceptor morphology ( J:184469 )

• some photoreceptors lack both inner and outer segments

absent photoreceptor inner segment ( J:184469 )

• in some mice at P14 and P60

short photoreceptor inner segment ( J:184469 )

• in some mice at P14 and P60

abnormal photoreceptor outer segment morphology ( J:184469 )

• cells are reduced in size and are rounded unlike in control cells

absent photoreceptor outer segment ( J:184469 )

• in some mice at P14 and P60

short photoreceptor outer segment ( J:184469 )

• in some mice at P14 and P60

abnormal retina rod cell morphology ( J:184469 )

• pseudorossettes of abnormal rod aggregations contain short and distorted outer and inner segments

retina photoreceptor degeneration ( J:184469 )

• during early postnatal stages and progressively worsening at later stages

hematopoietic system

microgliosis ( J:184469 )

• in the retina at P21, P35 and P60

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leber congenital amaurosis		DOID:14791	OMIM:PS204000	J:184469

Genotype
MGI:5927698

cx22

• Allelic Composition: Pias3^tm1.2Asw/Pias3^tm1.2Asw; Tg(rx3-icre)1Mjam/0
• Genetic Background: involves: C57BL/6J * SJL

vision/eye

abnormal cone electrophysiology ( J:243503 )

• 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

abnormal rod electrophysiology ( J:243503 )

• response to a- and b-waves in dark-adapted mice as measured with ERG started reducing from 7 months old