All Phenotypes Tg(Six3-cre)69Frty MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Tg(Six3-cre)69Frty
transgene insertion 69, Yasuhide Furuta
MGI:3574771

Summary

38 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Macf1^tm1Efu/Macf1^tm1Efu Tg(Six3-cre)69Frty/0	involves: 129 * C57BL/6 * DBA/2	MGI:6383933
cn2	Icmt^tm1Mbrg/Icmt^tm1Mbrg Tg(Six3-cre)69Frty/0	involves: 129 * C57BL/6 * DBA/2	MGI:6383205
cn3	Fzd5^tm1Mmt/Fzd5^tm1Cle Tg(Six3-cre)69Frty/0	involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6 * DBA/2	MGI:6379400
cn4	Fzd5^tm1Cle/Fzd5^tm1Cle Tg(Six3-cre)69Frty/0	involves: 129P2/OlaHsd * C57BL/6 * DBA/2	MGI:6379405
cn5	Pax6^tm1Ued/Pax6^tm1Ued Tg(Six3-cre)69Frty/0	involves: 129P2/OlaHsd * ICR	MGI:4354135
cn6	Kras^tm4Tyj/Kras^tm4Tyj Ptpn11^tm1Gsf/Ptpn11^tm1Gsf Tg(Six3-cre)69Frty/0	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * DBA/2	MGI:6384017
cn7	Pten^tm1Hwu/Pten^tm1Hwu Ptpn11^tm1Gsf/Ptpn11^tm1Gsf Tg(Six3-cre)69Frty/0	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * DBA/2	MGI:6384016
cn8	Eomes^tm1.1Whk/Eomes^tm1.1Whk Tg(Six3-cre)69Frty/0	involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * DBA/2	MGI:3776078
cn9	Sox11^tm1.1Gan/Sox11^tm1.1Gan Sox4^tm1Vlf/Sox4^tm1Vlf Tg(Six3-cre)69Frty/0	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6 * DBA/2	MGI:5518648
cn10	Sox4^tm1Vlf/Sox4^tm1Vlf Tg(Six3-cre)69Frty/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/6J * DBA/2	MGI:5518649
cn11	Porcn^tm1.1Lcm/Porcn^tm1.2Lcm Tg(Six3-cre)69Frty/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1 * DBA/2	MGI:6368181
cn12	Igs1^{tm11(CAG-Bgeo,-Edn2)Nat}/Igs1⁺ Tg(Six3-cre)69Frty/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2	MGI:5544086
cn13	Ptpn11^tm1Gsf/Ptpn11^tm1Gsf Tg(Six3-cre)69Frty/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2	MGI:6384014
cn14	Ptpn11^tm1Gsf/Ptpn11^tm1Gsf Stat3^tm1Xyfu/Stat3^tm1Xyfu Tg(Six3-cre)69Frty/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2	MGI:6384015
cn15	Rest^tm1.1Whk/Rest^tm1.1Whk Tg(Six3-cre)69Frty/0	involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6 * DBA/2	MGI:4867680
cn16	Atoh7^tm2Gan/Atoh7^tm2Gan Rest^tm1.1Whk/Rest^tm1.1Whk Tg(Six3-cre)69Frty/0	involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6 * DBA/2	MGI:4867681
cn17	Isl1^tm1.1Whk/Isl1^tm1.1Whk Tg(Six3-cre)69Frty/0	involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6 * DBA/2	MGI:3838015
cn18	Arl13b^tm1.1Tc/Arl13b^tm1.1Tc Tg(Six3-cre)69Frty/0	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * DBA/2	MGI:6382447
cn19	Sox11^tm1.1Gan/Sox11^tm1.1Gan Tg(Six3-cre)69Frty/0	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * DBA/2	MGI:5518647
cn20	Onecut1^tm1.1Mga/Onecut1^tm1.1Mga Tg(Six3-cre)69Frty/0	involves: 129S6/SvEvTac * C57BL/6 * DBA/2	MGI:6384690
cn21	Isl1^tm1Gan/Isl1^tm2Gan Pou4f2^tm1(ALPP)Whk/Pou4f2^tm2Whk Tg(Six3-cre)69Frty/?	involves: 129S6/SvEvTac * C57BL/6 * DBA/2	MGI:3797797
cn22	Isl1^tm2Gan/Isl1^tm2Gan Pou4f2^tm1(ALPP)Whk/Pou4f2^tm2Whk Tg(Six3-cre)69Frty/?	involves: 129S6/SvEvTac * C57BL/6 * DBA/2	MGI:3797796
cn23	Isl1^tm2Gan/Isl1^tm2Gan Tg(Six3-cre)69Frty/?	involves: 129S6/SvEvTac * C57BL/6 * DBA/2	MGI:3797795
cn24	Isl1^tm1Gan/Isl1^tm2Gan Tg(Six3-cre)69Frty/?	involves: 129S6/SvEvTac * C57BL/6 * DBA/2	MGI:3797794
cn25	Bmpr1a^tm1Bhr/Bmpr1a^tm2.1Bhr Bmpr1b^tm1Kml/Bmpr1b⁺ Tg(Six3-cre)69Frty/0	involves: 129S/SvEv	MGI:3574976
cn26	Bmpr1a^tm1Bhr/Bmpr1a^tm2.1Bhr Bmpr1b^tm1Kml/Bmpr1b^tm1Kml Tg(Six3-cre)69Frty/0	involves: 129S/SvEv	MGI:3574977
cn27	Pou4f2^tm4(DTA)Whk/Pou4f2^tm4(DTA)Whk Tg(Six3-cre)69Frty/?	involves: 129S/SvEv * C57BL/6 * DBA/2	MGI:3838794
cn28	Tmem30a^tm1.1Xjz/Tmem30a^tm1.1Xjz Tg(Six3-cre)69Frty/0	involves: 129/SvEv * C57BL/6 * DBA/2	MGI:6382635
cn29	Chm^tm1.1Seab/Chm^tm1.1Seab Tg(Six3-cre)69Frty/0	involves: 129X1/SvJ * C57BL/6 * DBA/2	MGI:3620093
cn30	Chm^tm1.1Seab/Y Tg(Six3-cre)69Frty/0	involves: 129X1/SvJ * C57BL/6 * DBA/2	MGI:3620094
cn31	Hbegf^tm1Hhar/Hbegf^tm1Hhar Tg(Six3-cre)69Frty/0	involves: C57BL/6 * CBA * DBA/2	MGI:4398744
cn32	Ntrk2^tm2Lfr/Ntrk2^tm2Lfr Tg(Six3-cre)69Frty/? Tg(Thy1-YFP)HJrs/?	involves: C57BL/6 * CBA * DBA/2	MGI:3717378
cn33	Rce1^tm2Kim/Rce1^tm1Visu Tg(Six3-cre)69Frty/0	involves: C57BL/6 * DBA/2 * FVB/N	MGI:6382984
cn34	Nrf1^{tm1c(KOMP)Wtsi}/Nrf1^{tm1c(KOMP)Wtsi} Tg(Six3-cre)69Frty/0	involves: C57BL/6N * DBA/2	MGI:6383435
cn35	Mpc1^{tm1c(EUCOMM)Wtsi}/Mpc1^{tm1c(EUCOMM)Wtsi} Tg(Six3-cre)69Frty/0	involves: C57BL/6N * DBA/2	MGI:6383176
cn36	Arl3^{Gt(EUCJ0159b07)1.1Hmgu}/Arl3^{Gt(EUCJ0159b07)1.1Hmgu} Tg(Six3-cre)69Frty/0	involves: C57BL/6N * DBA/2	MGI:6386322
cn37	Ahr^tm3.1Bra/Ahr^tm3.1Bra Tg(Six3-cre)69Frty/0	Not Specified	MGI:6199668
cn38	Bmpr1a^tm1Bhr/Bmpr1a^tm2.1Bhr Tg(Six3-cre)69Frty/0	Not Specified	MGI:3574975

Allelic Composition	Macf1^tm1Efu/Macf1^tm1Efu Tg(Six3-cre)69Frty/0
Genetic Background	involves: 129 * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Macf1^tm1Efu mutation (1 available); any Macf1 mutation (854 available)
Tg(Six3-cre)69Frty mutation (2 available)

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

vision/eye

abnormal retina morphology ( J:240903 )

• severe retinal dysplasia, predominately affecting the photoreceptor layer

abnormal retina bipolar cell morphology ( J:240903 )

• bipolar cell disorganization is seen at P10, with some cell bodies interspersed with photoreceptors, and becomes more severe at P21

abnormal retina development ( J:240903 )

• apicobasal polarity of developing photoreceptors is disrupted as indicated by a failure of ciliary rootlets to align along the apical margin of the retina and marker analysis

• basal bodies are displaced throughout the developing neuroblast layer as early as P0

• majority of basal bodies lack a docked ciliary vesicle, indicating inhibited ciliogenesis

• dividing cells are frequently seen ectopically in the mid-neuroblast layer

abnormal retina neuronal layer morphology ( J:240903 )

• separation of the inner nuclear layer and outer nuclear layer is disrupted at P5 and by P10, the outer nuclear layer is split and fragmented

abnormal retina photoreceptor layer morphology ( J:240903 )

• disruption of the outer retina lamination is seen at P5 but not P0

abnormal photoreceptor connecting cilium morphology ( J:240903 )

• ciliary rootlets are scattered throughout all retinal layers and the connecting cilium is absent at P5

absent photoreceptor inner segment ( J:240903 )

• inner segment is absent at maturity

absent photoreceptor outer segment ( J:240903 )

• outer segment is absent at maturity

abnormal electroretinogram waveform feature ( J:240903 )

• ERG a- and b-waves are absent in both dark- and light-adapted mice at 6 weeks of age, indicating loss of both rod and cone function

• mice are non-responsive 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 abolished

absent b-wave ( J:240903 )

• b-waves are absent in both dark- and light-adapted mice

nervous system

abnormal photoreceptor connecting cilium morphology ( J:240903 )

• ciliary rootlets are scattered throughout all retinal layers and the connecting cilium is absent at P5

abnormal retina bipolar cell morphology ( J:240903 )

• bipolar cell disorganization is seen at P10, with some cell bodies interspersed with photoreceptors, and becomes more severe at P21

absent photoreceptor inner segment ( J:240903 )

• inner segment is absent at maturity

absent photoreceptor outer segment ( J:240903 )

• outer segment is absent at maturity

cellular

abnormal photoreceptor connecting cilium morphology ( J:240903 )

• ciliary rootlets are scattered throughout all retinal layers and the connecting cilium is absent at P5

Allelic Composition	Icmt^tm1Mbrg/Icmt^tm1Mbrg Tg(Six3-cre)69Frty/0
Genetic Background	involves: 129 * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Icmt^tm1Mbrg mutation (0 available); any Icmt mutation (12 available)
Tg(Six3-cre)69Frty mutation (2 available)

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

vision/eye

abnormal retina neuronal layer morphology ( J:231728 )

• photoreceptors show a slow and progressive loss of 3 or 4 nuclear layers by P160

• however, photoreceptor development is normal

retina photoreceptor degeneration ( J:231728 )

• slow and progressive photoreceptor degeneration by P160

abnormal electroretinogram waveform feature ( J:231728 )

• ERG shows that light-evoked response is progressively reduced in retinas by P160

• cones exhibit a greater functional loss than rods

• however, no changes in rod or cone responses are seen at P24

decreased a-wave amplitude ( J:231728 )

• rod responses progressively decline with age, with maximal rod responses reduced by 82% at P160

decreased b-wave amplitude ( J:231728 )

• cone responses are reduced by 92% at P160

abnormal vision ( J:231728 )

• progressive loss of vision

nervous system

retina photoreceptor degeneration ( J:231728 )

• slow and progressive photoreceptor degeneration by P160

Allelic Composition	Fzd5^tm1Mmt/Fzd5^tm1Cle Tg(Six3-cre)69Frty/0
Genetic Background	involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fzd5^tm1Cle mutation (1 available); any Fzd5 mutation (33 available)
Fzd5^tm1Mmt mutation (0 available); any Fzd5 mutation (33 available)
Tg(Six3-cre)69Frty mutation (2 available)

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

vision/eye

vision/eye phenotype ( J:142601 )

N	• mice exhibit normal optic fissure closure at E14.5

increased cornea thickness ( J:142601 )

• at E14.5

small lens ( J:142601 )

• variable and not highly significant reduction in diameter

microphthalmia ( J:142601 )

abnormal retina layer morphology ( J:142601 )

• abnormal lamination in some mice especially in the inner retinas and rosette structures

• however, retina distant from the hyperplastic vitreous vasculature is normal

disorganized retina ganglion layer ( J:142601 )

• adjacent to the hyperplastic vitreous vasculature mixed with neuroblast layer

increased total retina thickness ( J:142601 )

• at E14.5

retina detachment ( J:142601 )

• partial in some mice

• complete in some mice

retina fold ( J:142601 )

• retinal folds in some mice

vitreous body deposition ( J:142601 )

• retrolental mass at E12.5 and E17.5 that disrupts neuroblast lamination in the adjacent retinal area

abnormal eye physiology ( J:142601 )

• on going proliferation of hyperplastic vitreous vasculature

abnormal retina apoptosis ( J:142601 )

• increased apoptosis of ganglion cells adjacent to the hyperplastic vitreous vasculature, which fails to undergo apoptosis

cardiovascular system

abnormal vascular regression ( J:142601 )

• due to failure of vascular regression, the retrolental mass develops into pigmented hyperplastic primary vasculature that persists in postnatal stages (P0, P10 and P23) occasionally attached to the lens or the inner surface of the retina

cellular

abnormal vascular regression ( J:142601 )

abnormal retina apoptosis ( J:142601 )

• increased apoptosis of ganglion cells adjacent to the hyperplastic vitreous vasculature, which fails to undergo apoptosis

Allelic Composition	Fzd5^tm1Cle/Fzd5^tm1Cle Tg(Six3-cre)69Frty/0
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fzd5^tm1Cle mutation (1 available); any Fzd5 mutation (33 available)
Tg(Six3-cre)69Frty mutation (2 available)

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

vision/eye

vision/eye phenotype ( J:136314 )

N	• mice exhibit normal optic cup and lens development

Allelic Composition	Pax6^tm1Ued/Pax6^tm1Ued Tg(Six3-cre)69Frty/0
Genetic Background	involves: 129P2/OlaHsd * ICR

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6^tm1Ued mutation (1 available); any Pax6 mutation (94 available)
Tg(Six3-cre)69Frty mutation (2 available)

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

nervous system

abnormal telencephalon development ( J:151427 )

• thalamocortical axonal development is disrupted compared to in wild-type mice

• at E14.5, the cell-sparse zone spanning the diencephalic-telencephalic border appears disorganized and only a narrow cell-sparse shaft extended across the ventral telencephalon unlike in wild-type mice

• at E14.5, an abnormally thin bundle of thalamocortical axons cross the ventral telencephalon with much of the bundle of axons descending through the diencephalon appearing to end at the diencephalic-telencephalic border unlike in wild-type mice

• at E14.5, a small number of axons leave the internal capsule along it's length to grow in a ventral direction unlike in wild-type mice

• at E16.5, the internal capsule appears abnormally narrow and reduced in size compared to in wild-type mice

• at E16.5, diI injections label a bifurcated tract in which some axons course ventrally in the direction of the hypothalamus unlike in wild-type mice

• unlike in wild-type mice, many thalamic axons fail to navigate normal from the diencephalic-telencephalic border to the internal capsule and fail to exit in a ventral direction

• at E16.5, some descending corticofugal axons from the visual cortex become misrouted unlike in wild-type mice

abnormal brain internal capsule morphology ( J:151427 )

• at E16.5, the internal capsule appears abnormally narrow and reduced in size compared to in wild-type mice

Allelic Composition	Kras^tm4Tyj/Kras^tm4Tyj Ptpn11^tm1Gsf/Ptpn11^tm1Gsf Tg(Six3-cre)69Frty/0
Genetic Background	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kras^tm4Tyj mutation (9 available); any Kras mutation (84 available)
Ptpn11^tm1Gsf mutation (0 available); any Ptpn11 mutation (46 available)
Tg(Six3-cre)69Frty mutation (2 available)

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

vision/eye

vision/eye phenotype ( J:174095 )

N	• normal retina morphology at age P21 and P120 • normal optic nerve morphology at age P21 and P120

decreased a-wave amplitude ( J:174095 )

• with scotopic ERG using very bright flashes at age 3 months, but not as severe as mice with wildtype Kras allele

decreased b-wave amplitude ( J:174095 )

• with scotopic ERG using dim flashes at age 3 months, but not as severe as mice with wildtype Kras allele

• with photopic ERG using double flashes at age 3 months, but not as severe as mice with wildtype Kras allele

abnormal cone electrophysiology ( J:174095 )

• reduced b wave amplitude with photopic ERG using double flashes at age 3 months, but not as severe as mice with wildtype Kras allele

abnormal rod electrophysiology ( J:174095 )

• reduced saturated a wave amplitude with scotopic ERG using very bright flashes at age 3 months, but not as severe as mice with wildtype Kras allele

• reduced b wave amplitude with scotopic ERG using dim flashes at age 3 months, but not as severe as mice with wildtype Kras allele

Allelic Composition	Pten^tm1Hwu/Pten^tm1Hwu Ptpn11^tm1Gsf/Ptpn11^tm1Gsf Tg(Six3-cre)69Frty/0
Genetic Background	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pten^tm1Hwu mutation (16 available); any Pten mutation (88 available)
Ptpn11^tm1Gsf mutation (0 available); any Ptpn11 mutation (46 available)
Tg(Six3-cre)69Frty mutation (2 available)

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

vision/eye

retina ganglion cell degeneration ( J:174095 )

• much thinner at age P21

optic nerve atrophy ( J:174095 )

• much thinner at age P21

thin retina ganglion layer ( J:174095 )

• severe reduction at age P21

thin retina inner nuclear layer ( J:174095 )

• severe reduction at age P21

thin retina outer nuclear layer ( J:174095 )

• severe reduction at age P21

retina outer nuclear layer degeneration ( J:174095 )

• much thinner at age P21

retina degeneration ( J:174095 )

• much thinner at age P21

nervous system

retina ganglion cell degeneration ( J:174095 )

• much thinner at age P21

optic nerve atrophy ( J:174095 )

• much thinner at age P21

Allelic Composition	Eomes^tm1.1Whk/Eomes^tm1.1Whk Tg(Six3-cre)69Frty/0
Genetic Background	involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eomes^tm1.1Whk mutation (0 available); any Eomes mutation (44 available)
Tg(Six3-cre)69Frty mutation (2 available)

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

vision/eye

increased retina apoptosis ( J:130570 )

• at E18.5, there is dramatic increase in apoptotic retinal ganglion cells compared to heterozygous retinas

• apoptotic cells are more numerous at P1, P6, and P12 than in controls but differences are less than at E18

• more apoptotic cells are also detected in the ganglion cell layer, inner nuclear layer and outer nuclear layer but differences from controls are not significant after P12

abnormal retina ganglion cell morphology ( J:130570 )

• density of retinal ganglion cell (RGC) axon bundles is notably reduced

• orientation of RGC axons towards optic disk is abnormal

decreased retina ganglion cell number ( J:130570 )

• 30% reduction in number of retinal ganglion cell RGC axons in peripheral and central regions of the retina compared to heterozygotes

abnormal optic nerve morphology ( J:130570 )

• in adults, optic nerves are 30% smaller than heterozygous controls

• few axons are myelinated compared to control optic nerves; where present, myelin ensheathment is thinner, disorganized, and loosely packed

• some neurites show smaller diameters than normal axons and contain large numbers of microtubules instead of neurofilaments

thin retina ganglion layer ( J:130570 )

• thickness is slightly reduced relative to controls

nervous system

abnormal retina ganglion cell morphology ( J:130570 )

• density of retinal ganglion cell (RGC) axon bundles is notably reduced

• orientation of RGC axons towards optic disk is abnormal

decreased retina ganglion cell number ( J:130570 )

• 30% reduction in number of retinal ganglion cell RGC axons in peripheral and central regions of the retina compared to heterozygotes

abnormal optic nerve morphology ( J:130570 )

• in adults, optic nerves are 30% smaller than heterozygous controls

• few axons are myelinated compared to control optic nerves; where present, myelin ensheathment is thinner, disorganized, and loosely packed

• some neurites show smaller diameters than normal axons and contain large numbers of microtubules instead of neurofilaments

cellular

increased retina apoptosis ( J:130570 )

• at E18.5, there is dramatic increase in apoptotic retinal ganglion cells compared to heterozygous retinas

• apoptotic cells are more numerous at P1, P6, and P12 than in controls but differences are less than at E18

• more apoptotic cells are also detected in the ganglion cell layer, inner nuclear layer and outer nuclear layer but differences from controls are not significant after P12

Allelic Composition	Sox11^tm1.1Gan/Sox11^tm1.1Gan Sox4^tm1Vlf/Sox4^tm1Vlf Tg(Six3-cre)69Frty/0
Genetic Background	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox11^tm1.1Gan mutation (0 available); any Sox11 mutation (15 available)
Sox4^tm1Vlf mutation (0 available); any Sox4 mutation (23 available)
Tg(Six3-cre)69Frty mutation (2 available)

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

Decrease in retinal ganglion cells in single Sox11^tm1.1Gan and Sox4^tm1Vlf homozygous conditional mutants and abolishment of retinal ganglion cells in Sox11^tm1.1Gan/Sox11^tm1.1Gan Sox4^tm1Vlf/Sox4^tm1Vlf Tg(Six3-cre)69Frty/0 retinas

mortality/aging

postnatal lethality, complete penetrance ( J:199663 )

• mice die before P14

vision/eye

increased retina apoptosis ( J:199663 )

• 6-fold increase starting at E14.5

• 10-fold increase starting at E16.5

decreased amacrine cell number ( J:199663 )

decreased retina ganglion cell number ( J:199663 )

• only a few cells present at E12.5

absent retina ganglion cell ( J:199663 )

abnormal retina bipolar cell morphology ( J:199663 )

• decreased number

absent optic nerve ( J:199663 )

abnormal eye development ( J:199663 )

• impaired retinal ganglion cell development

absent retina ganglion layer ( J:199663 )

• at E16.5

thin retina ganglion layer ( J:199663 )

• at E14.5

absent retina inner plexiform layer ( J:199663 )

abnormal retina outer plexiform layer morphology ( J:199663 )

• absent

growth/size/body

decreased birth body size ( J:199663 )

cellular

increased retina apoptosis ( J:199663 )

• 6-fold increase starting at E14.5

• 10-fold increase starting at E16.5

nervous system

decreased amacrine cell number ( J:199663 )

decreased retina ganglion cell number ( J:199663 )

• only a few cells present at E12.5

absent retina ganglion cell ( J:199663 )

abnormal retina bipolar cell morphology ( J:199663 )

• decreased number

absent optic nerve ( J:199663 )

Allelic Composition	Sox4^tm1Vlf/Sox4^tm1Vlf Tg(Six3-cre)69Frty/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/6J * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox4^tm1Vlf mutation (0 available); any Sox4 mutation (23 available)
Tg(Six3-cre)69Frty mutation (2 available)

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

vision/eye

vision/eye phenotype ( J:199663 )

N	• mice exhibit normal numbers of horizontal, Muller glial, cone and rod cells

increased retina apoptosis ( J:199663 )

• 2-fold increase starting at E14.5

optic nerve hypoplasia ( J:199663 )

• thin

abnormal eye development ( J:199663 )

• impaired retinal ganglion cell development

abnormal retina morphology ( J:199663 )

• reduced number of axon bundles in the retina

decreased amacrine cell number ( J:199663 )

• in the inner nuclear layer and ganglion cell layer

decreased retina ganglion cell number ( J:199663 )

• beginning at E16.5

• moderate at P0 and in adult mice

abnormal retina bipolar cell morphology ( J:199663 )

• decreased number

thin retina ganglion layer ( J:199663 )

thin retina inner nuclear layer ( J:199663 )

cellular

increased retina apoptosis ( J:199663 )

• 2-fold increase starting at E14.5

abnormal axon fasciculation ( J:199663 )

• reduced in retinal axon bundles

nervous system

abnormal axon fasciculation ( J:199663 )

• reduced in retinal axon bundles

decreased amacrine cell number ( J:199663 )

• in the inner nuclear layer and ganglion cell layer

decreased retina ganglion cell number ( J:199663 )

• beginning at E16.5

• moderate at P0 and in adult mice

abnormal retina bipolar cell morphology ( J:199663 )

• decreased number

optic nerve hypoplasia ( J:199663 )

• thin

Allelic Composition	Porcn^tm1.1Lcm/Porcn^tm1.2Lcm Tg(Six3-cre)69Frty/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Porcn^tm1.1Lcm mutation (0 available); any Porcn mutation (18 available)
Porcn^tm1.2Lcm mutation (0 available); any Porcn mutation (18 available)
Tg(Six3-cre)69Frty mutation (2 available)

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

craniofacial

abnormal craniofacial morphology ( J:218165 )

• in some mice

vision/eye

abnormal retina pigmentation ( J:218165 )

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

failure of eyelid fusion ( J:218165 )

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

coloboma ( J:218165 )

• at E13.5

growth/size/body

failure of ventral body wall closure ( J:218165 )

nervous system

abnormal midbrain-hindbrain boundary morphology ( J:218165 )

• in some mice

pigmentation

abnormal retina pigmentation ( J:218165 )

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

integument

skin hypoplasia ( J:218165 )

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

Allelic Composition	Igs1^{tm11(CAG-Bgeo,-Edn2)Nat}/Igs1⁺ Tg(Six3-cre)69Frty/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Igs1^{tm11(CAG-Bgeo,-Edn2)Nat} mutation (1 available); any Igs1 mutation (10 available)
Tg(Six3-cre)69Frty mutation (2 available)

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

Retinal vascular defects in Igs1^{tm11(CAG-Bgeo,-Edn2)Nat}/Igs1⁺ Tg(Six3-cre)69Frty/0 mice

vision/eye

abnormal retina morphology ( J:201133 )

• some retinal regions are very thin; especially in the ganglion cell and inner nuclear layers or less commonly in the outer nuclear layer

• the peripheral retina is thinner at P6

abnormal retina vasculature morphology ( J:201133 )

• in some regions few or no blood vessels are observed on the vitreal face of the retina while in other regions clusters of blood vessels occupy the vitreal face

• overall density of astrocytes and endothelial cells in the vascularized territory of this retina is several fold higher than in controls

abnormal retina blood vessel morphology ( J:201133 )

• many vessels in the developing retinal vascular plexus are not patent at P7 and P11 unlike in controls

abnormal retina blood vessel pattern ( J:201133 )

• absence of the normal intraretinal capillary beds in the inner and outer plexiform layers

• absence of vessels in the overlying the peripheral retina at P6

thin retina ganglion layer ( J:201133 )

• some regions are very thin

thin retina inner nuclear layer ( J:201133 )

• some regions are very thin

thin retina outer nuclear layer ( J:201133 )

• not as common as in the inner nuclear and ganglion cell layers

retina detachment ( J:201133 )

• regions of extensive detachment with numerous macrophages in the subretinal space, severe folding of the retina, accumulation of interstitial fluid, and/or development of interstitial fibrosis

retina fibrosis ( J:201133 )

• interstitial fibrosis is seen in some regions

retina fold ( J:201133 )

• severe folding of the retina

cardiovascular system

abnormal retina vasculature morphology ( J:201133 )

• in some regions few or no blood vessels are observed on the vitreal face of the retina while in other regions clusters of blood vessels occupy the vitreal face

• overall density of astrocytes and endothelial cells in the vascularized territory of this retina is several fold higher than in controls

abnormal retina blood vessel morphology ( J:201133 )

• many vessels in the developing retinal vascular plexus are not patent at P7 and P11 unlike in controls

abnormal retina blood vessel pattern ( J:201133 )

• absence of the normal intraretinal capillary beds in the inner and outer plexiform layers

• absence of vessels in the overlying the peripheral retina at P6

abnormal angiogenesis ( J:201133 )

• modest delay in the expansion of the astrocyte front in the developing retina at P3-P6 that is gone by P8

• endothelial cell growth is significantly retarded at all postnatal ages with the radial position of the growing endothelial cells largely arrested by P6

• filopodia-bearing endothelial cells are seen throughout much of the vascular plexus in the retina instead of being located predominantly in the growing front

• large excess of tip cells in the developing retinal vascular plexus

homeostasis/metabolism

hypoxia ( J:201133 )

• in the retina

Allelic Composition	Ptpn11^tm1Gsf/Ptpn11^tm1Gsf Tg(Six3-cre)69Frty/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptpn11^tm1Gsf mutation (0 available); any Ptpn11 mutation (46 available)
Tg(Six3-cre)69Frty mutation (2 available)

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

vision/eye

retina ganglion cell degeneration ( J:174095 )

• increased apoptosis at age P10

• normal levels of apoptosis between ages E16 and P7

optic nerve atrophy ( J:174095 )

• much thinner and with numerous vacuoles at age P21

thin retina ganglion layer ( J:174095 )

• severe reduction at age P21 and P120

• normal at age P7

abnormal retina inner nuclear layer morphology ( J:174095 )

• increased apoptosis between age P10 and P14

thin retina inner nuclear layer ( J:174095 )

• normal at age P7

• severe reduction at age P21 and P120

thin retina inner plexiform layer ( J:174095 )

• severe reduction at age P21 and P120

• normal at age P7

thin retina outer nuclear layer ( J:174095 )

• normal at age P7

• severe reduction at age P21 and P120

retina outer nuclear layer degeneration ( J:174095 )

• much thinner at age P21

• rosette structures at age P21

• complete loss of photoreceptor cells in some parts at age P120

• increased apoptosis at age P21

• normal levels of apoptosis between ages E16 and P7

retina degeneration ( J:174095 )

• much thinner at age P21

• rosette structures in outer nuclear layer (ONL) at age P21

• absence of optic nerve fiber layer/inner limiting membrane layer (NFL/ILML) at age P21

• complete loss of photoreceptor cells in some parts of ONL at age P120

• increased apoptosis from age P10

• 50% reduction in all retinal neurons and Mueller glia cells at age P21

• reactive gliosis of Mueller glia cells at age P21

• normal levels of apoptosis between ages E16 and P7

decreased a-wave amplitude ( J:174095 )

• with scotopic ERG using very bright flashes at age 3 months

decreased b-wave amplitude ( J:174095 )

• with scotopic ERG using dim flashes at age 3 months

• with photopic ERG using double flashes at age 3 months

abnormal cone electrophysiology ( J:174095 )

• significantly reduced b wave amplitude with photopic ERG using double flashes at age 3 months

abnormal rod electrophysiology ( J:174095 )

• significantly reduced saturated a wave amplitude with scotopic ERG using very bright flashes at age 3 months

nervous system

retina ganglion cell degeneration ( J:174095 )

• increased apoptosis at age P10

• normal levels of apoptosis between ages E16 and P7

optic nerve atrophy ( J:174095 )

• much thinner and with numerous vacuoles at age P21

Allelic Composition	Ptpn11^tm1Gsf/Ptpn11^tm1Gsf Stat3^tm1Xyfu/Stat3^tm1Xyfu Tg(Six3-cre)69Frty/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptpn11^tm1Gsf mutation (0 available); any Ptpn11 mutation (46 available)
Stat3^tm1Xyfu mutation (1 available); any Stat3 mutation (72 available)
Tg(Six3-cre)69Frty mutation (2 available)

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

vision/eye

retina ganglion cell degeneration ( J:174095 )

• much thinner at age P21, more severe than in mice with wildtype Stat3 allele

thin retina ganglion layer ( J:174095 )

• severe reduction at age P21, more severe than in mice with wildtype Stat3 allele

thin retina inner nuclear layer ( J:174095 )

• severe reduction at age P21, more severe than in mice with wildtype Stat3 allele

thin retina outer nuclear layer ( J:174095 )

• severe reduction at age P21, more severe than in mice with wildtype Stat3 allele

retina outer nuclear layer degeneration ( J:174095 )

• much thinner at age P21, more severe than in mice with wildtype Stat3 allele

thin retina outer plexiform layer ( J:174095 )

• largely disappeared at age P21, more severe than in mice with wildtype Stat3 allele

retina degeneration ( J:174095 )

• much thinner at age P21, more severe than in mice with wildtype Stat3 allele

nervous system

retina ganglion cell degeneration ( J:174095 )

• much thinner at age P21, more severe than in mice with wildtype Stat3 allele

Allelic Composition	Rest^tm1.1Whk/Rest^tm1.1Whk Tg(Six3-cre)69Frty/0
Genetic Background	involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rest^tm1.1Whk mutation (0 available); any Rest mutation (96 available)
Tg(Six3-cre)69Frty mutation (2 available)

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

vision/eye

abnormal retina progenitor cell morphology ( J:167071 )

• increase in the number of mitotic retinal progenitor cells compared to littermate controls

abnormal retina ganglion layer morphology ( J:167071 )

• many cell clumps protrude towards the retinal pigment epithelia

increased retina ganglion cell number ( J:167071 )

• at E14, E15.5 and P20

thick retina ganglion layer ( J:167071 )

• at P20

thick retina inner plexiform layer ( J:167071 )

• thicker at P20

nervous system

increased retina ganglion cell number ( J:167071 )

• at E14, E15.5 and P20

Allelic Composition	Atoh7^tm2Gan/Atoh7^tm2Gan Rest^tm1.1Whk/Rest^tm1.1Whk Tg(Six3-cre)69Frty/0
Genetic Background	involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atoh7^tm2Gan mutation (0 available); any Atoh7 mutation (9 available)
Rest^tm1.1Whk mutation (0 available); any Rest mutation (96 available)
Tg(Six3-cre)69Frty mutation (2 available)

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

vision/eye

abnormal retina morphology ( J:167071 )

• mis-patterning of the retina is more severe than in mutant mice wild-type for Atoh7

abnormal retina development ( J:167071 )

• few ganglion cells are detected in the nascent retinal ganglion layer at E13.5 despite many being generated in the neuroblast layer suggesting a defect in migration and maturation

• many dying cells are present in the retinal ganglion cell layer at E13.5

Allelic Composition	Isl1^tm1.1Whk/Isl1^tm1.1Whk Tg(Six3-cre)69Frty/0
Genetic Background	involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1^tm1.1Whk mutation (0 available); any Isl1 mutation (36 available)
Tg(Six3-cre)69Frty mutation (2 available)

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

vision/eye

vision/eye phenotype ( J:146349 )

N	• the number and organization of the photoreceptor cells in the outer nuclear layer are normal

increased retina apoptosis ( J:146349 )

• at E17.5, the number of cells undergoing apoptosis in the retina is greater than in wild-type retinas

• however, retinal apoptosis at E14.5 is normal

decreased amacrine cell number ( J:146349 )

• at P10, amacrine cells are reduced compared to in wild-type mice

• at P16, cholinergic amacrine cells are completely lost unlike in wild-type mice

abnormal retina bipolar cell morphology ( J:146349 )

• at P10, the number of bipolar cells is reduced compared to in wild-type mice

• at P16, cone on-bipolar and rod bipolar cells are completely lost unlike in wild-type mice

abnormal retina ganglion cell morphology ( J:146349 )

• at E17.5, the number of Pou4f2+ retinal ganglion cells in the neuroblast layer is greater than in wild-type mice

• however, mice exhibit normal retinal ganglion cell development and numbers at E14.5

decreased retina ganglion cell number ( J:146349 )

• 28% Pou4f2+ retinal ganglion cells of wild-type at P5

• 5% Pou4f2+ retinal ganglion cells of wild-type at P16

abnormal optic nerve morphology ( J:146349 )

• at P16, the optic nerve is thin and severely disrupted compared to in wild-type mice within thin axons that are not properly myelinated

optic nerve degeneration ( J:146349 )

• axons within the optic never exhibit degeneration unlike in wild-type mice

microphthalmia ( J:146349 )

• at P16

thin retina inner nuclear layer ( J:146349 )

• the inner nuclear layer is half as thick as in wild-type mice due to a decrease in cell numbers within the layer

thin retina inner plexiform layer ( J:146349 )

abnormal retina outer plexiform layer morphology ( J:146349 )

• the margins of the outer plexiform layer are ragged unlike in wild-type mice

nervous system

decreased amacrine cell number ( J:146349 )

• at P10, amacrine cells are reduced compared to in wild-type mice

• at P16, cholinergic amacrine cells are completely lost unlike in wild-type mice

abnormal retina bipolar cell morphology ( J:146349 )

• at P10, the number of bipolar cells is reduced compared to in wild-type mice

• at P16, cone on-bipolar and rod bipolar cells are completely lost unlike in wild-type mice

abnormal retina ganglion cell morphology ( J:146349 )

• at E17.5, the number of Pou4f2+ retinal ganglion cells in the neuroblast layer is greater than in wild-type mice

• however, mice exhibit normal retinal ganglion cell development and numbers at E14.5

decreased retina ganglion cell number ( J:146349 )

• 28% Pou4f2+ retinal ganglion cells of wild-type at P5

• 5% Pou4f2+ retinal ganglion cells of wild-type at P16

abnormal optic nerve morphology ( J:146349 )

• at P16, the optic nerve is thin and severely disrupted compared to in wild-type mice within thin axons that are not properly myelinated

optic nerve degeneration ( J:146349 )

• axons within the optic never exhibit degeneration unlike in wild-type mice

cellular

increased retina apoptosis ( J:146349 )

• at E17.5, the number of cells undergoing apoptosis in the retina is greater than in wild-type retinas

• however, retinal apoptosis at E14.5 is normal

Allelic Composition	Arl13b^tm1.1Tc/Arl13b^tm1.1Tc Tg(Six3-cre)69Frty/0
Genetic Background	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Arl13b^tm1.1Tc mutation (1 available); any Arl13b mutation (24 available)
Tg(Six3-cre)69Frty mutation (2 available)

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

vision/eye

abnormal ocular fundus morphology ( J:272501 )

• extracellular vesicles (ectosomes) with uniform diameter are seen in the subretinal space at P10

abnormal photoreceptor connecting cilium morphology ( J:272501 )

• marker analysis indicates that axonemal/ciliary extension is disrupted in the retina

• photoreceptors show shorter ciliary rootlets at P10

• basal bodies are displaced and often seen within the inner segments adjacent to the outer limiting membrane indicating that basal bodies do not dock properly at the apical edge of the inner segments

short photoreceptor inner segment ( J:272501 )

• shorter photoreceptor inner segments at P10

abnormal photoreceptor outer segment morphology ( J:272501 )

• reduction of photoreceptor outer segment-resident proteins at P10

• P10 retinas show a complete absence of recognizable outer segments with a few outer segment rudiments that are highly vesiculated and lack the stacked discs

abnormal photoreceptor outer segment disc membrane morphology ( J:272501 )

• photoreceptors fail to develop outer segment membranous discs

short photoreceptor outer segment ( J:272501 )

retina photoreceptor degeneration ( J:272501 )

• photoreceptor cell death is seen at P10 and by P27, rapid photoreceptor degeneration with extensive loss is seen in the central retina compared with the peripheral edges

abnormal retina development ( J:272501 )

• initial development of photoreceptors is defective as indicated by a 58% and 71.4% decrease in the number of pHH3+ and Ki-67+ (proliferating) retinal progenitor cells, respectively, and a decrease in apoptosis in P5 retina

decreased total retina thickness ( J:272501 )

• retinal thickness is reduced at P5

abnormal electroretinogram waveform feature ( J:272501 )

• ERG analysis indicates a severe loss of rod (scotopic) and cone (photopic) photoreceptor function

nervous system

abnormal photoreceptor connecting cilium morphology ( J:272501 )

• marker analysis indicates that axonemal/ciliary extension is disrupted in the retina

• photoreceptors show shorter ciliary rootlets at P10

short photoreceptor inner segment ( J:272501 )

• shorter photoreceptor inner segments at P10

abnormal photoreceptor outer segment morphology ( J:272501 )

• reduction of photoreceptor outer segment-resident proteins at P10

• P10 retinas show a complete absence of recognizable outer segments with a few outer segment rudiments that are highly vesiculated and lack the stacked discs

abnormal photoreceptor outer segment disc membrane morphology ( J:272501 )

• photoreceptors fail to develop outer segment membranous discs

short photoreceptor outer segment ( J:272501 )

retina photoreceptor degeneration ( J:272501 )

• photoreceptor cell death is seen at P10 and by P27, rapid photoreceptor degeneration with extensive loss is seen in the central retina compared with the peripheral edges

cellular

abnormal photoreceptor connecting cilium morphology ( J:272501 )

• marker analysis indicates that axonemal/ciliary extension is disrupted in the retina

• photoreceptors show shorter ciliary rootlets at P10

Allelic Composition	Sox11^tm1.1Gan/Sox11^tm1.1Gan Tg(Six3-cre)69Frty/0
Genetic Background	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox11^tm1.1Gan mutation (0 available); any Sox11 mutation (15 available)
Tg(Six3-cre)69Frty mutation (2 available)

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

vision/eye

vision/eye phenotype ( J:199663 )

N	• mice exhibit normal numbers of horizontal, Muller glial, cone and rod cells

increased retina apoptosis ( J:199663 )

• 2-fold increase starting at E14.5

optic nerve hypoplasia ( J:199663 )

• thin

abnormal eye development ( J:199663 )

• impaired retinal ganglion cell development

abnormal retina morphology ( J:199663 )

• reduced number of axon bundles in the retina

decreased amacrine cell number ( J:199663 )

• in the inner nuclear layer and ganglion cell layer

decreased retina ganglion cell number ( J:199663 )

• beginning from E12.5 to E16.5

• moderate at P0 and in adult mice

abnormal retina bipolar cell morphology ( J:199663 )

• decreased number

thin retina ganglion layer ( J:199663 )

thin retina inner nuclear layer ( J:199663 )

growth/size/body

decreased birth weight ( J:199663 )

• moderate

• however, mice exhibit normal body weight and size by P30

cellular

increased retina apoptosis ( J:199663 )

• 2-fold increase starting at E14.5

abnormal axon fasciculation ( J:199663 )

• reduced in retinal axon bundles

nervous system

abnormal axon fasciculation ( J:199663 )

• reduced in retinal axon bundles

decreased amacrine cell number ( J:199663 )

• in the inner nuclear layer and ganglion cell layer

decreased retina ganglion cell number ( J:199663 )

• beginning from E12.5 to E16.5

• moderate at P0 and in adult mice

abnormal retina bipolar cell morphology ( J:199663 )

• decreased number

optic nerve hypoplasia ( J:199663 )

• thin

Allelic Composition	Onecut1^tm1.1Mga/Onecut1^tm1.1Mga Tg(Six3-cre)69Frty/0
Genetic Background	involves: 129S6/SvEvTac * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Onecut1^tm1.1Mga mutation (1 available); any Onecut1 mutation (12 available)
Tg(Six3-cre)69Frty mutation (2 available)

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

vision/eye

vision/eye phenotype ( J:200752 )

• normal location, morphology and number of rods, cones, bipolar, Mueller, amacrine, and retinal ganglion cells at age P16 and 3 months

• normal retinal outer (ONL) and inner (INL) nuclear layer and retinal inner plexiform (IPL) and ganglion cell (GCL) layer morphology at age P16

• normal levels of apoptosis in retina at ages E14.5, E17.5 and P0

thin retina outer nuclear layer ( J:200752 )

• around 3x thinner at age 8 months

• slightly thinner at age 5 months

disorganized retina outer nuclear layer ( J:200752 )

• less tightly packed at age 5 months

retina outer nuclear layer degeneration ( J:200752 )

• slightly thinner at age 5 months

• around 3x thinner at age 8 months

abnormal retina outer plexiform layer morphology ( J:200752 )

• larger spaces between horizontal cells (HCs) with longer and thicker processes at age P16 and 3 months

• 85% reduction in Lim1+ HC precursors at age E14.5 and HCs at age E17.5

• normal non-random mosaic distribution pattern at age P16

thin retina outer plexiform layer ( J:200752 )

• thinner and sometimes absent at age P16 and 3 months

• 74% reduction in number of horizontal cells (HCs) at age P16

• virtually absent at age 5 months

decreased a-wave amplitude ( J:200752 )

• much smaller across all light intensities using dark-adapted flash ERG at age 5 months

decreased b-wave amplitude ( J:200752 )

• much smaller across all light intensities using dark-adapted flash ERG at age 5 months

• around 3x smaller across all light intensities using light-adapted flash ERG at age 5 months

• normal time to peak

Allelic Composition	Isl1^tm1Gan/Isl1^tm2Gan Pou4f2^tm1(ALPP)Whk/Pou4f2^tm2Whk Tg(Six3-cre)69Frty/?
Genetic Background	involves: 129S6/SvEvTac * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1^tm1Gan mutation (0 available); any Isl1 mutation (36 available)
Isl1^tm2Gan mutation (0 available); any Isl1 mutation (36 available)
Pou4f2^tm1(ALPP)Whk mutation (0 available); any Pou4f2 mutation (7 available)
Pou4f2^tm2Whk mutation (0 available); any Pou4f2 mutation (7 available)
Tg(Six3-cre)69Frty mutation (2 available)

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

vision/eye

retina ganglion cell degeneration ( J:134978 )

• retinal ganglion cells expressing Pou4f1 are severely reduced in adult retina

• adult mice only have about 5% the number of retinal ganglion cells as do the controls

• genesis of RGCs are not affected as they are present in E13.5 embryos

optic nerve hypoplasia ( J:134978 )

• the optic nerve is barely detectable in adults with only a very limited number of axon bundles present

nervous system

retina ganglion cell degeneration ( J:134978 )

• retinal ganglion cells expressing Pou4f1 are severely reduced in adult retina

• adult mice only have about 5% the number of retinal ganglion cells as do the controls

• genesis of RGCs are not affected as they are present in E13.5 embryos

optic nerve hypoplasia ( J:134978 )

• the optic nerve is barely detectable in adults with only a very limited number of axon bundles present

Allelic Composition	Isl1^tm2Gan/Isl1^tm2Gan Pou4f2^tm1(ALPP)Whk/Pou4f2^tm2Whk Tg(Six3-cre)69Frty/?
Genetic Background	involves: 129S6/SvEvTac * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1^tm2Gan mutation (0 available); any Isl1 mutation (36 available)
Pou4f2^tm1(ALPP)Whk mutation (0 available); any Pou4f2 mutation (7 available)
Pou4f2^tm2Whk mutation (0 available); any Pou4f2 mutation (7 available)
Tg(Six3-cre)69Frty mutation (2 available)

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

vision/eye

retina ganglion cell degeneration ( J:134978 )

• retinal ganglion cells expressing Pou4f1 are severely reduced in adult retina

• adult mice only have about 5% the number of retinal ganglion cells as do the controls

• genesis of RGCs are not affected as they are present in E13.5 embryos

optic nerve hypoplasia ( J:134978 )

• the optic nerve is barely detectable in adults with only a very limited number of axon bundles present

nervous system

retina ganglion cell degeneration ( J:134978 )

• retinal ganglion cells expressing Pou4f1 are severely reduced in adult retina

• adult mice only have about 5% the number of retinal ganglion cells as do the controls

• genesis of RGCs are not affected as they are present in E13.5 embryos

optic nerve hypoplasia ( J:134978 )

• the optic nerve is barely detectable in adults with only a very limited number of axon bundles present

Allelic Composition	Isl1^tm2Gan/Isl1^tm2Gan Tg(Six3-cre)69Frty/?
Genetic Background	involves: 129S6/SvEvTac * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1^tm2Gan mutation (0 available); any Isl1 mutation (36 available)
Tg(Six3-cre)69Frty mutation (2 available)

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

vision/eye

abnormal optic nerve innervation ( J:134978 )

• retinal ganglion axons fail to reach the midline at E13.5

• At E15.5, the axons in the optic nerve are less fasciculated and appear to be grouped into two bundles

• in addition, a substantial portion of retinal ganglion cells fail to send out axons or their axons do not exit the optic cup

retina ganglion cell degeneration ( J:134978 )

• retinal ganglion cells expressing Pou4f2 are lost from the center of the retina to the periphery starting at E17.5

• there is a corresponding increase in the number of apoptotic cells in the ganglion cell layer starting at E16.5 and peaking at E17.5

• adult mice only have about a third the number of retinal ganglion cells as do the controls

optic nerve hypoplasia ( J:134978 )

• mice have much thinner optic nerves, optic chiasms and optic tracts

nervous system

abnormal optic tract morphology ( J:134978 )

• mice have much thinner optic nerves, optic chiasms and optic tracts

abnormal optic nerve innervation ( J:134978 )

• retinal ganglion axons fail to reach the midline at E13.5

• At E15.5, the axons in the optic nerve are less fasciculated and appear to be grouped into two bundles

• in addition, a substantial portion of retinal ganglion cells fail to send out axons or their axons do not exit the optic cup

retina ganglion cell degeneration ( J:134978 )

• retinal ganglion cells expressing Pou4f2 are lost from the center of the retina to the periphery starting at E17.5

• there is a corresponding increase in the number of apoptotic cells in the ganglion cell layer starting at E16.5 and peaking at E17.5

• adult mice only have about a third the number of retinal ganglion cells as do the controls

optic nerve hypoplasia ( J:134978 )

• mice have much thinner optic nerves, optic chiasms and optic tracts

Allelic Composition	Isl1^tm1Gan/Isl1^tm2Gan Tg(Six3-cre)69Frty/?
Genetic Background	involves: 129S6/SvEvTac * C57BL/6 * DBA/2

Find Mice

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

vision/eye

abnormal optic nerve innervation ( J:134978 )

• retinal ganglion axons fail to reach the midline at E13.5

• At E15.5, the axons in the optic nerve are less fasciculated and appear to be grouped into two bundles

• in addition, a substantial portion of retinal ganglion cells fail to send out axons or their axons do not exit the optic cup

retina ganglion cell degeneration ( J:134978 )

• retinal ganglion cells expressing Pou4f2 are lost from the center of the retina to the periphery starting at E17.5

• there is a corresponding increase in the number of apoptotic cells in the ganglion cell layer starting at E16.5 and peaking at E17.5

• adult mice only have about a third the number of retinal ganglion cells as do the controls

optic nerve hypoplasia ( J:134978 )

• mice have much thinner optic nerves, optic chiasms and optic tracts

nervous system

abnormal optic tract morphology ( J:134978 )

• mice have much thinner optic nerves, optic chiasms and optic tracts

abnormal optic nerve innervation ( J:134978 )

• retinal ganglion axons fail to reach the midline at E13.5

• At E15.5, the axons in the optic nerve are less fasciculated and appear to be grouped into two bundles

• in addition, a substantial portion of retinal ganglion cells fail to send out axons or their axons do not exit the optic cup

retina ganglion cell degeneration ( J:134978 )

• retinal ganglion cells expressing Pou4f2 are lost from the center of the retina to the periphery starting at E17.5

• there is a corresponding increase in the number of apoptotic cells in the ganglion cell layer starting at E16.5 and peaking at E17.5

• adult mice only have about a third the number of retinal ganglion cells as do the controls

optic nerve hypoplasia ( J:134978 )

• mice have much thinner optic nerves, optic chiasms and optic tracts

Allelic Composition	Bmpr1a^tm1Bhr/Bmpr1a^tm2.1Bhr Bmpr1b^tm1Kml/Bmpr1b⁺ Tg(Six3-cre)69Frty/0
Genetic Background	involves: 129S/SvEv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1a^tm1Bhr mutation (1 available); any Bmpr1a mutation (90 available)
Bmpr1a^tm2.1Bhr mutation (1 available); any Bmpr1a mutation (90 available)
Bmpr1b^tm1Kml mutation (0 available); any Bmpr1b mutation (40 available)
Tg(Six3-cre)69Frty mutation (2 available)

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

vision/eye

abnormal retina ganglion cell morphology ( J:96964 )

• many dorsal retinal ganglion cell axons form ectopic termination zones

• eye size and retinal layer morphology are normal

nervous system

abnormal retina ganglion cell morphology ( J:96964 )

• many dorsal retinal ganglion cell axons form ectopic termination zones

• eye size and retinal layer morphology are normal

Allelic Composition	Bmpr1a^tm1Bhr/Bmpr1a^tm2.1Bhr Bmpr1b^tm1Kml/Bmpr1b^tm1Kml Tg(Six3-cre)69Frty/0
Genetic Background	involves: 129S/SvEv

Find Mice

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

pigmentation

abnormal retina pigment epithelium morphology ( J:96964 )

• at E12.5 the margin of the pigment epithelium is rough and a ventral discontinuity of the pigment is seen

vision/eye

increased retina apoptosis ( J:96964 )

• beginning at E11.25-E11.50 excess apoptosis is seen throughout the retina

abnormal eye development ( J:96964 )

• around E11.5 a drastic reduction in cell proliferation is seen in the retina

• Atoh7 expression is not initiated at E11.5 suggesting a failure to initiate retinal neurogenesis

abnormal retina morphology ( J:96964 )

• beginning at E11.25-E11.50 the retinal neuroectoderm is thinner

abnormal retina pigment epithelium morphology ( J:96964 )

• at E12.5 the margin of the pigment epithelium is rough and a ventral discontinuity of the pigment is seen

anophthalmia ( J:96964 )

• eyes are small at E12.5 and absent at birth

cellular

increased retina apoptosis ( J:96964 )

• beginning at E11.25-E11.50 excess apoptosis is seen throughout the retina

Allelic Composition	Pou4f2^tm4(DTA)Whk/Pou4f2^tm4(DTA)Whk Tg(Six3-cre)69Frty/?
Genetic Background	involves: 129S/SvEv * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pou4f2^tm4(DTA)Whk mutation (1 available); any Pou4f2 mutation (7 available)
Tg(Six3-cre)69Frty mutation (2 available)

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

vision/eye

abnormal optic nerve morphology ( J:97089 )

• clearly abnormal in 16 day old mice

• thinner with smaller diameter fibers

• unmyelinated fibers

abnormal optic disk morphology ( J:97089 )

• deformed at E14.5

abnormal retina morphology ( J:97089 )

• overall structure remains normal through 5 months of age

• reduced cell proliferation and increased apoptosis

thin retina ganglion layer ( J:97089 )

• more than 98% of retinal ganglion cells ablated at E14.5

• only displaced amacrine cells present at 16 days of age

decreased total retina thickness ( J:97089 )

• noticeably thinner at E14.5

• 30-50% thinner than controls at 16 days of age

abnormal eye electrophysiology ( J:97089 )

• saturated amplitudes of both light and dark adapted b-waves 25% of normal

• dark adapted a-wave amplitude 42% of normal

• negative scotopic threshold response is very small

• positive scotopic threshold response is absent

nervous system

abnormal optic nerve morphology ( J:97089 )

• clearly abnormal in 16 day old mice

• thinner with smaller diameter fibers

• unmyelinated fibers

abnormal optic disk morphology ( J:97089 )

• deformed at E14.5

Allelic Composition	Tmem30a^tm1.1Xjz/Tmem30a^tm1.1Xjz Tg(Six3-cre)69Frty/0
Genetic Background	involves: 129/SvEv * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Six3-cre)69Frty mutation (2 available)
Tmem30a^tm1.1Xjz mutation (0 available); any Tmem30a mutation (30 available)

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

vision/eye

absent retina ( J:253580 )

• retina absent at age 2 months

retina degeneration ( J:253580 )

• significant loss of neural cells at age P12

• retina absent at age 2 months

Allelic Composition	Chm^tm1.1Seab/Chm^tm1.1Seab Tg(Six3-cre)69Frty/0
Genetic Background	involves: 129X1/SvJ * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chm^tm1.1Seab mutation (0 available); any Chm mutation (14 available)
Tg(Six3-cre)69Frty mutation (2 available)

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

vision/eye

abnormal retina morphology ( J:105458 )

• no depigmentation in the retinal pigment layer

short photoreceptor outer segment ( J:105458 )

• significantly shorter than normal

thin retina outer nuclear layer ( J:105458 )

• 7-8 nuclei thick at 2 months of age

• 4-5 nuclei thick at 4 months of age

abnormal rod electrophysiology ( J:105458 )

• single flash electroretinography shows the loss of "a" waves

nervous system

short photoreceptor outer segment ( J:105458 )

• significantly shorter than normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
choroideremia		DOID:9821	OMIM:303100	J:105458

Allelic Composition	Chm^tm1.1Seab/Y Tg(Six3-cre)69Frty/0
Genetic Background	involves: 129X1/SvJ * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chm^tm1.1Seab mutation (0 available); any Chm mutation (14 available)
Tg(Six3-cre)69Frty mutation (2 available)

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

vision/eye

abnormal retina morphology ( J:105458 )

• no depigmentation in the retinal pigment layer

short photoreceptor outer segment ( J:105458 )

• significantly shorter than normal

thin retina outer nuclear layer ( J:105458 )

• 7-8 nuclei thick at 2 months of age

• 4-5 nuclei thick at 4 months of age

abnormal rod electrophysiology ( J:105458 )

• single flash electroretinography shows the loss of "a" waves

nervous system

short photoreceptor outer segment ( J:105458 )

• significantly shorter than normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
choroideremia		DOID:9821	OMIM:303100	J:105458

Allelic Composition	Hbegf^tm1Hhar/Hbegf^tm1Hhar Tg(Six3-cre)69Frty/0
Genetic Background	involves: C57BL/6 * CBA * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hbegf^tm1Hhar mutation (0 available); any Hbegf mutation (26 available)
Tg(Six3-cre)69Frty mutation (2 available)

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

Morphological changes in the prefrontal cortex of Hbegf^tm1Hhar/Hbegf^tm1Hhar Tg(Six3-cre)69Frty/0 mice

behavior/neurological

abnormal behavioral response to xenobiotic ( J:154094 )

• Haloperidol, a dopamine receptor antagonist, ameliorates the hyperlocomotion both in dark and light phases

• Clozapine, a DA/serotonin receptor antagonist, reduces the locomotor activity only in light phase

• PPI deficits are significantly reversed by atypical antipsychotics, risperidone and clozapine but not by a typical neuroleptic haloperidol

• Clozapine, but not haloperidol, significantly attenuates the decreased social interaction behavior

abnormal spatial reference memory ( J:154094 )

• in a Y maze, mice display a significant decrease in alternation compared to control mice

hyperactivity ( J:154094 )

• mice are more active than control mice over the 24-hr period (both dark and light phases)

increased locomotor activity ( J:154094 )

• during the first 0-3 hr in a novel environment, KO mice are more active than control mice

• Haloperidol, a dopamine receptor antagonist, ameliorates the hyperlocomotion both in dark and light phases

• Clozapine, a DA/serotonin receptor antagonist, reduces the locomotor activity only in light phase

abnormal social investigation ( J:154094 )

• the mean duration per contact as well as the time of the interaction are significantly less than in control mice

• Clozapine, but not haloperidol, significantly attenuates the decreased social interaction behavior

nervous system

abnormal cerebral cortex pyramidal cell morphology ( J:154094 )

• the number of spines per 10 mm of dendritic segment are lower in KO than in control mice

decreased prepulse inhibition ( J:154094 )

• diminished PPI at prepulse intensities at both 73 and 76 dB

• PPI deficits are significantly reversed by atypical antipsychotics, risperidone and clozapine but not by a typical neuroleptic haloperidol

Allelic Composition	Ntrk2^tm2Lfr/Ntrk2^tm2Lfr Tg(Six3-cre)69Frty/? Tg(Thy1-YFP)HJrs/?
Genetic Background	involves: C57BL/6 * CBA * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ntrk2^tm2Lfr mutation (1 available); any Ntrk2 mutation (66 available)
Tg(Six3-cre)69Frty mutation (2 available)
Tg(Thy1-YFP)HJrs mutation (3 available)

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

vision/eye

abnormal retina ganglion cell morphology ( J:122929 )

• at P28, mice have a greater percent of ON-OFF retinal ganglion cells (RGCs) than in control mice

• at P28, mice have fewer ON and OFF RGCs than controls

• at P28, mice have fewer numbers of ON RGC dendritic branches

• at P50, 55.4+/-4.3% of RGCs are bilaminated compared to 37.8+/-1.1% in controls

nervous system

abnormal dendrite morphology ( J:122929 )

• at P28, mice have fewer numbers of ON retinal ganglion cells (RGCs) dendritic branches

abnormal retina ganglion cell morphology ( J:122929 )

• at P28, mice have a greater percent of ON-OFF retinal ganglion cells (RGCs) than in control mice

• at P28, mice have fewer ON and OFF RGCs than controls

• at P28, mice have fewer numbers of ON RGC dendritic branches

• at P50, 55.4+/-4.3% of RGCs are bilaminated compared to 37.8+/-1.1% in controls

Allelic Composition	Rce1^tm2Kim/Rce1^tm1Visu Tg(Six3-cre)69Frty/0
Genetic Background	involves: C57BL/6 * DBA/2 * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rce1^tm1Visu mutation (0 available); any Rce1 mutation (14 available)
Rce1^tm2Kim mutation (0 available); any Rce1 mutation (14 available)
Tg(Six3-cre)69Frty mutation (2 available)

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

vision/eye

vision/eye phenotype ( J:171900 )

N	• normal retinal ganglion and outer and inner nuclear layers at age P8 • normal retinal ganglion and inner nuclear layers up to age 1 year • normal development and survival of horizontal, amacrine and ganglion cells at age P30

thin retina outer nuclear layer ( J:171900 )

• at age P16

• normal at age P8

retina outer nuclear layer degeneration ( J:171900 )

• at age P16

• normal at age P8

decreased a-wave amplitude ( J:171900 )

• with scotopic and photopic ERG at age P14 and P35

decreased b-wave amplitude ( J:171900 )

• with scotopic and photopic ERG at age P14 and P35

Allelic Composition	Nrf1^{tm1c(KOMP)Wtsi}/Nrf1^{tm1c(KOMP)Wtsi} Tg(Six3-cre)69Frty/0
Genetic Background	involves: C57BL/6N * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nrf1^{tm1c(KOMP)Wtsi} mutation (0 available); any Nrf1 mutation (70 available)
Tg(Six3-cre)69Frty mutation (2 available)

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

vision/eye

abnormal retina morphology ( J:267504 )

• disrupted and acellular central region near the optic disc

abnormal retina progenitor cell morphology ( J:267504 )

• severe reduction in proliferation at E13.5

abnormal retina layer morphology ( J:267504 )

• large sub-retinal space between the retina and pigmented epithelium

abnormal retina neuronal layer morphology ( J:267504 )

• reduced cell numbers in all cellular layers at P20 and 7 months of age

• disrupted laminar layers at 7 months of age

decreased retina ganglion cell number ( J:267504 )

• few Pou4f2+ retinal ganglion cells

• few Isl1+ retinal ganglion cells at E12.5

• at E16.5, newly differentiated retinal ganglion cells spread to the peripheral region failing to migrate toward the vitreous layer

absent retina ganglion layer ( J:267504 )

• near complete abolishment as early as E14.5

thin retina ganglion layer ( J:267504 )

• at E16.5

decreased total retina thickness ( J:267504 )

• small and thin at E16.5

• at P20

retina hypoplasia ( J:267504 )

• at P20 and 7 months of age

cellular

abnormal axon extension ( J:267504 )

• defective axon outgrowth in E13.5 retinal explants

nervous system

abnormal axon extension ( J:267504 )

• defective axon outgrowth in E13.5 retinal explants

decreased retina ganglion cell number ( J:267504 )

• few Isl1+ retinal ganglion cells at E12.5

• few Pou4f2+ retinal ganglion cells

• at E16.5, newly differentiated retinal ganglion cells spread to the peripheral region failing to migrate toward the vitreous layer

Allelic Composition	Mpc1^{tm1c(EUCOMM)Wtsi}/Mpc1^{tm1c(EUCOMM)Wtsi} Tg(Six3-cre)69Frty/0
Genetic Background	involves: C57BL/6N * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mpc1^{tm1c(EUCOMM)Wtsi} mutation (0 available); any Mpc1 mutation (16 available)
Tg(Six3-cre)69Frty mutation (2 available)

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

vision/eye

abnormal Muller cell morphology ( J:271892 )

• activated and disorganized Muller glial cells

abnormal retina photoreceptor morphology ( J:271892 )

• abnormal inner and outer segment junction layer caused by a shed portion of an ellipsoid region with swollen mitochondria and small vacuoles

abnormal photoreceptor inner segment morphology ( J:271892 )

• small vacuoles

abnormal photoreceptor outer segment disc membrane morphology ( J:271892 )

• at P30

short photoreceptor outer segment ( J:271892 )

• slight at P14 near the optic nerve

• at P20 with progressive decrease thereafter

thin retina inner plexiform layer ( J:271892 )

• at P30

thin retina outer nuclear layer ( J:271892 )

• at P20 with progressive decrease thereafter

retina degeneration ( J:271892 )

abnormal eye physiology ( J:271892 )

• reduced retinal lactate to pyruvate ratio

• blocked glucose oxidation in retinal mitochondria with accumulation of pyruvate and aspartate and reduced intermediates, especially glutamine

• enhanced consumption of ketone bodies in the retina

• decreased acylcarnitine indicating enhanced fatty acid oxidation in the retina

• accumulation of aspartate at the expense of glutamine in the retina

• reduced oxygen consumption rate in retinal mitochondria with reduced ATP and NADH at P30

abnormal cone electrophysiology ( J:271892 )

• impaired at P30 and remaining constant until P90

abnormal rod electrophysiology ( J:271892 )

• progressive decline in a-wave responses at P30, P60 and P90

• progressive decreased b-wave responses beginning at P20

• however, response at P20 is normal

homeostasis/metabolism

abnormal glucose homeostasis ( J:271892 )

• blocked glucose oxidation in retinal mitochondria with accumulation of pyruvate and aspartate and reduced intermediates, especially glutamine

abnormal metabolism ( J:271892 )

• increased pyruvate, aspartate and proline with decreased coenzyme A, 3-hydroxybutyrate, glutamate, glutamine and glutathione in the retina

• reduced retinal lactate to pyruvate ratio

• blocked glucose oxidation in retinal mitochondria with accumulation of pyruvate and aspartate and reduced intermediates, especially glutamine

• enhanced consumption of ketone bodies in the retina

• decreased acylcarnitine indicating enhanced fatty acid oxidation in the retina

• accumulation of aspartate at the expense of glutamine in the retina

• reduced oxygen consumption rate in retinal mitochondria with reduced ATP and NADH at P30

nervous system

abnormal Muller cell morphology ( J:271892 )

• activated and disorganized Muller glial cells

abnormal retina photoreceptor morphology ( J:271892 )

• abnormal inner and outer segment junction layer caused by a shed portion of an ellipsoid region with swollen mitochondria and small vacuoles

abnormal photoreceptor inner segment morphology ( J:271892 )

• small vacuoles

abnormal photoreceptor outer segment disc membrane morphology ( J:271892 )

• at P30

short photoreceptor outer segment ( J:271892 )

• slight at P14 near the optic nerve

• at P20 with progressive decrease thereafter

Allelic Composition	Arl3^{Gt(EUCJ0159b07)1.1Hmgu}/Arl3^{Gt(EUCJ0159b07)1.1Hmgu} Tg(Six3-cre)69Frty/0
Genetic Background	involves: C57BL/6N * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Arl3^{Gt(EUCJ0159b07)1.1Hmgu} mutation (0 available); any Arl3 mutation (27 available)
Tg(Six3-cre)69Frty mutation (2 available)

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

vision/eye

abnormal photoreceptor connecting cilium morphology ( J:232436 )

• lack of ciliogenesis

• however, ciliogenesis is rescued by adenovirus expression of the protein

short photoreceptor outer segment ( J:232436 )

• absent in the central retina with a lack of ciliogenesis

• however, the outer segment is present in the retina periphery and ciliogenesis is rescued by adenovirus expression of the protein

retina cone cell degeneration ( J:232436 )

• at P15

retina rod cell degeneration ( J:232436 )

• at P15

retina degeneration ( J:232436 )

• at 2 month with no response to light

abnormal cone electrophysiology ( J:232436 )

• reduced at P15 and further at 1 month

abnormal rod electrophysiology ( J:232436 )

• reduced at P15 and further at 1 month

behavior/neurological

abnormal optokinetic reflex ( J:232436 )

• reduced at 1 month and nearly extinguished at 2 months

nervous system

abnormal photoreceptor connecting cilium morphology ( J:232436 )

• lack of ciliogenesis

• however, ciliogenesis is rescued by adenovirus expression of the protein

short photoreceptor outer segment ( J:232436 )

• absent in the central retina with a lack of ciliogenesis

• however, the outer segment is present in the retina periphery and ciliogenesis is rescued by adenovirus expression of the protein

retina cone cell degeneration ( J:232436 )

• at P15

retina rod cell degeneration ( J:232436 )

• at P15

cellular

abnormal photoreceptor connecting cilium morphology ( J:232436 )

• lack of ciliogenesis

• however, ciliogenesis is rescued by adenovirus expression of the protein

Allelic Composition	Ahr^tm3.1Bra/Ahr^tm3.1Bra Tg(Six3-cre)69Frty/0
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ahr^tm3.1Bra mutation (1 available); any Ahr mutation (112 available)
Tg(Six3-cre)69Frty mutation (2 available)

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

vision/eye

increased retina apoptosis ( J:265123 )

• increased expression of proapoptotic protein Ddit3

• according to TUNEL assay

short photoreceptor outer segment ( J:265123 )

• thinner at age 18 months

photoreceptor outer segment degeneration ( J:265123 )

• thinner at age 18 months

retina photoreceptor degeneration ( J:265123 )

• reduced number of photoreceptor cells per row in outer nuclear layer (ONL) at age 18 months

retina outer nuclear layer degeneration ( J:265123 )

• reduced number of photoreceptor cells per row at age 18 months

retina degeneration ( J:265123 )

• reduced number of photoreceptor cells outer nuclear layer (ONL) per row at age 18 months

• thinner outer segment at age 18 months

• inner nuclear layer (INL) at age 18 months

abnormal rod electrophysiology ( J:265123 )

• decreased scotopic responses at age 12 months: around 30 % reduction in b-wave and around 15 % reduction in a-wave mean amplitude at 0 and 1 log cd.s/m² light intensity

nervous system

short photoreceptor outer segment ( J:265123 )

• thinner at age 18 months

photoreceptor outer segment degeneration ( J:265123 )

• thinner at age 18 months

retina photoreceptor degeneration ( J:265123 )

• reduced number of photoreceptor cells per row in outer nuclear layer (ONL) at age 18 months

cellular

increased retina apoptosis ( J:265123 )

• increased expression of proapoptotic protein Ddit3

• according to TUNEL assay

Allelic Composition	Bmpr1a^tm1Bhr/Bmpr1a^tm2.1Bhr Tg(Six3-cre)69Frty/0
Genetic Background	Not Specified

Find Mice

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

vision/eye

vision/eye phenotype ( J:96964 )

N	• no overt eye abnormalities are seen, the retinal layers and retinotectal projections are normal

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