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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 21 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Pax6tm1Ued/Pax6tm1Ued
Tg(Six3-cre)69Frty/0
involves: 129P2/OlaHsd * ICR MGI:4354135
cn2
Eomestm1.1Whk/Eomestm1.1Whk
Tg(Six3-cre)69Frty/0
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * DBA/2 MGI:3776078
cn3
Sox11tm1.1Gan/Sox11tm1.1Gan
Sox4tm1Vlf/Sox4tm1Vlf
Tg(Six3-cre)69Frty/0
involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6 * DBA/2 MGI:5518648
cn4
Sox4tm1Vlf/Sox4tm1Vlf
Tg(Six3-cre)69Frty/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/6J * DBA/2 MGI:5518649
cn5
Igs1tm11(CAG-Bgeo,-Edn2)Nat/Igs1+
Tg(Six3-cre)69Frty/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2 MGI:5544086
cn6
Isl1tm1.1Whk/Isl1tm1.1Whk
Tg(Six3-cre)69Frty/0
involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6 * DBA/2 MGI:3838015
cn7
Resttm1.1Whk/Resttm1.1Whk
Tg(Six3-cre)69Frty/0
involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6 * DBA/2 MGI:4867680
cn8
Atoh7tm2Gan/Atoh7tm2Gan
Resttm1.1Whk/Resttm1.1Whk
Tg(Six3-cre)69Frty/0
involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6 * DBA/2 MGI:4867681
cn9
Sox11tm1.1Gan/Sox11tm1.1Gan
Tg(Six3-cre)69Frty/0
involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * DBA/2 MGI:5518647
cn10
Isl1tm2Gan/Isl1tm2Gan
Pou4f2tm1(ALPP)Whk/Pou4f2tm2Whk
Tg(Six3-cre)69Frty/?
involves: 129S6/SvEvTac * C57BL/6 * DBA/2 MGI:3797796
cn11
Isl1tm1Gan/Isl1tm2Gan
Pou4f2tm1(ALPP)Whk/Pou4f2tm2Whk
Tg(Six3-cre)69Frty/?
involves: 129S6/SvEvTac * C57BL/6 * DBA/2 MGI:3797797
cn12
Isl1tm1Gan/Isl1tm2Gan
Tg(Six3-cre)69Frty/?
involves: 129S6/SvEvTac * C57BL/6 * DBA/2 MGI:3797794
cn13
Isl1tm2Gan/Isl1tm2Gan
Tg(Six3-cre)69Frty/?
involves: 129S6/SvEvTac * C57BL/6 * DBA/2 MGI:3797795
cn14
Bmpr1atm1Bhr/Bmpr1atm2.1Bhr
Bmpr1btm1Kml/Bmpr1btm1Kml
Tg(Six3-cre)69Frty/0
involves: 129S/SvEv MGI:3574977
cn15
Bmpr1atm1Bhr/Bmpr1atm2.1Bhr
Bmpr1btm1Kml/Bmpr1b+
Tg(Six3-cre)69Frty/0
involves: 129S/SvEv MGI:3574976
cn16
Pou4f2tm4Whk/Pou4f2tm4Whk
Tg(Six3-cre)69Frty/?
involves: 129S/SvEv * C57BL/6 * DBA/2 MGI:3838794
cn17
Chmtm1.1Seab/Chmtm1.1Seab
Tg(Six3-cre)69Frty/0
involves: 129X1/SvJ * C57BL/6 * DBA/2 MGI:3620093
cn18
Chmtm1.1Seab/Y
Tg(Six3-cre)69Frty/0
involves: 129X1/SvJ * C57BL/6 * DBA/2 MGI:3620094
cn19
Ntrk2tm2Lfr/Ntrk2tm2Lfr
Tg(Six3-cre)69Frty/?
Tg(Thy1-YFP)HJrs/?
involves: C57BL/6 * CBA * DBA/2 MGI:3717378
cn20
Hbegftm1Hhar/Hbegftm1Hhar
Tg(Six3-cre)69Frty/0
involves: C57BL/6 * CBA * DBA/2 MGI:4398744
cn21
Bmpr1atm1Bhr/Bmpr1atm2.1Bhr
Tg(Six3-cre)69Frty/0
Not Specified MGI:3574975


Genotype
MGI:4354135
cn1
Allelic
Composition
Pax6tm1Ued/Pax6tm1Ued
Tg(Six3-cre)69Frty/0
Genetic
Background
involves: 129P2/OlaHsd * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6tm1Ued mutation (1 available); any Pax6 mutation (58 available)
Tg(Six3-cre)69Frty mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 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
• at E16.5, the internal capsule appears abnormally narrow and reduced in size compared to in wild-type mice




Genotype
MGI:3776078
cn2
Allelic
Composition
Eomestm1.1Whk/Eomestm1.1Whk
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:
Eomestm1.1Whk mutation (0 available); any Eomes mutation (25 available)
Tg(Six3-cre)69Frty mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• 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
• density of retinal ganglion cell (RGC) axon bundles is notably reduced
• orientation of RGC axons towards optic disk is abnormal
• 30% reduction in number of retinal ganglion cell RGC axons in peripheral and central regions of the retina compared to heterozygotes
• 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
• thickness is slightly reduced relative to controls

nervous system
• density of retinal ganglion cell (RGC) axon bundles is notably reduced
• orientation of RGC axons towards optic disk is abnormal
• 30% reduction in number of retinal ganglion cell RGC axons in peripheral and central regions of the retina compared to heterozygotes
• 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
• 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




Genotype
MGI:5518648
cn3
Allelic
Composition
Sox11tm1.1Gan/Sox11tm1.1Gan
Sox4tm1Vlf/Sox4tm1Vlf
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:
Sox11tm1.1Gan mutation (0 available); any Sox11 mutation (6 available)
Sox4tm1Vlf mutation (0 available); any Sox4 mutation (10 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 Sox11tm1.1Gan and Sox4tm1Vlf homozygous conditional mutants and abolishment of retinal ganglion cells in Sox11tm1.1Gan/Sox11tm1.1Gan Sox4tm1Vlf/Sox4tm1Vlf Tg(Six3-cre)69Frty/0 retinas

mortality/aging

vision/eye
• 6-fold increase starting at E14.5
• 10-fold increase starting at E16.5
• only a few cells present at E12.5
• impaired retinal ganglion cell development

growth/size/body

cellular
• 6-fold increase starting at E14.5
• 10-fold increase starting at E16.5

nervous system
• only a few cells present at E12.5




Genotype
MGI:5518649
cn4
Allelic
Composition
Sox4tm1Vlf/Sox4tm1Vlf
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:
Sox4tm1Vlf mutation (0 available); any Sox4 mutation (10 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 Sox11tm1.1Gan and Sox4tm1Vlf homozygous conditional mutants and abolishment of retinal ganglion cells in Sox11tm1.1Gan/Sox11tm1.1Gan Sox4tm1Vlf/Sox4tm1Vlf Tg(Six3-cre)69Frty/0 retinas

vision/eye
N
• mice exhibit normal numbers of horizontal, Muller glial, cone and rod cells
• 2-fold increase starting at E14.5
• impaired retinal ganglion cell development
• reduced number of axon bundles in the retina
• in the inner nuclear layer and ganglion cell layer
• beginning at E16.5
• moderate at P0 and in adult mice

cellular
• 2-fold increase starting at E14.5
• reduced in retinal axon bundles

nervous system
• reduced in retinal axon bundles
• in the inner nuclear layer and ganglion cell layer
• beginning at E16.5
• moderate at P0 and in adult mice




Genotype
MGI:5544086
cn5
Allelic
Composition
Igs1tm11(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:
Igs1tm11(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 Igs1tm11(CAG-Bgeo,-Edn2)Nat/Igs1+ Tg(Six3-cre)69Frty/0 mice

vision/eye
• 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
• 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
• many vessels in the developing retinal vascular plexus are not patent at P7 and P11 unlike in controls
• 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
• some regions are very thin
• some regions are very thin
• not as common as in the inner nuclear and ganglion cell layers
• 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
• interstitial fibrosis is seen in some regions

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




Genotype
MGI:3838015
cn6
Allelic
Composition
Isl1tm1.1Whk/Isl1tm1.1Whk
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:
Isl1tm1.1Whk mutation (0 available); any Isl1 mutation (16 available)
Tg(Six3-cre)69Frty mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
N
• the number and organization of the photoreceptor cells in the outer nuclear layer are normal
• 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
• 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
• 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
• 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
• 28% Pou4f2+ retinal ganglion cells of wild-type at P5
• 5% Pou4f2+ retinal ganglion cells of wild-type at P16
• at P16, the optic nerve is thin and severely disrupted compared to in wild-type mice within thin axons that are not properly myelinated
• axons within the optic never exhibit degeneration unlike in wild-type mice
• at P16
• the inner nuclear layer is half as thick as in wild-type mice due to a decrease in cell numbers within the layer
• the margins of the outer plexiform layer are ragged unlike in wild-type mice

nervous system
• 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
• 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
• 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
• 28% Pou4f2+ retinal ganglion cells of wild-type at P5
• 5% Pou4f2+ retinal ganglion cells of wild-type at P16
• at P16, the optic nerve is thin and severely disrupted compared to in wild-type mice within thin axons that are not properly myelinated
• axons within the optic never exhibit degeneration unlike in wild-type mice

cellular
• 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




Genotype
MGI:4867680
cn7
Allelic
Composition
Resttm1.1Whk/Resttm1.1Whk
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:
Resttm1.1Whk mutation (0 available); any Rest mutation (65 available)
Tg(Six3-cre)69Frty mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• increase in the number of mitotic retinal progenitor cells compared to littermate controls
• many cell clumps protrude towards the retinal pigment epithelia
• at E14, E15.5 and P20

nervous system
• at E14, E15.5 and P20




Genotype
MGI:4867681
cn8
Allelic
Composition
Atoh7tm2Gan/Atoh7tm2Gan
Resttm1.1Whk/Resttm1.1Whk
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:
Atoh7tm2Gan mutation (0 available); any Atoh7 mutation (2 available)
Resttm1.1Whk mutation (0 available); any Rest mutation (65 available)
Tg(Six3-cre)69Frty mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• mis-patterning of the retina is more severe than in mutant mice wild-type for Atoh7
• 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




Genotype
MGI:5518647
cn9
Allelic
Composition
Sox11tm1.1Gan/Sox11tm1.1Gan
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:
Sox11tm1.1Gan mutation (0 available); any Sox11 mutation (6 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 Sox11tm1.1Gan and Sox4tm1Vlf homozygous conditional mutants and abolishment of retinal ganglion cells in Sox11tm1.1Gan/Sox11tm1.1Gan Sox4tm1Vlf/Sox4tm1Vlf Tg(Six3-cre)69Frty/0 retinas

vision/eye
N
• mice exhibit normal numbers of horizontal, Muller glial, cone and rod cells
• 2-fold increase starting at E14.5
• impaired retinal ganglion cell development
• reduced number of axon bundles in the retina
• in the inner nuclear layer and ganglion cell layer
• beginning from E12.5 to E16.5
• moderate at P0 and in adult mice

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

cellular
• 2-fold increase starting at E14.5
• reduced in retinal axon bundles

nervous system
• reduced in retinal axon bundles
• in the inner nuclear layer and ganglion cell layer
• beginning from E12.5 to E16.5
• moderate at P0 and in adult mice




Genotype
MGI:3797796
cn10
Allelic
Composition
Isl1tm2Gan/Isl1tm2Gan
Pou4f2tm1(ALPP)Whk/Pou4f2tm2Whk
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:
Isl1tm2Gan mutation (0 available); any Isl1 mutation (16 available)
Pou4f2tm1(ALPP)Whk mutation (0 available); any Pou4f2 mutation (1 available)
Pou4f2tm2Whk mutation (0 available); any Pou4f2 mutation (1 available)
Tg(Six3-cre)69Frty mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• 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
• the optic nerve is barely detectable in adults with only a very limited number of axon bundles present

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




Genotype
MGI:3797797
cn11
Allelic
Composition
Isl1tm1Gan/Isl1tm2Gan
Pou4f2tm1(ALPP)Whk/Pou4f2tm2Whk
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:
Isl1tm1Gan mutation (0 available); any Isl1 mutation (16 available)
Isl1tm2Gan mutation (0 available); any Isl1 mutation (16 available)
Pou4f2tm1(ALPP)Whk mutation (0 available); any Pou4f2 mutation (1 available)
Pou4f2tm2Whk mutation (0 available); any Pou4f2 mutation (1 available)
Tg(Six3-cre)69Frty mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• 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
• the optic nerve is barely detectable in adults with only a very limited number of axon bundles present

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




Genotype
MGI:3797794
cn12
Allelic
Composition
Isl1tm1Gan/Isl1tm2Gan
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:
Isl1tm1Gan mutation (0 available); any Isl1 mutation (16 available)
Isl1tm2Gan mutation (0 available); any Isl1 mutation (16 available)
Tg(Six3-cre)69Frty mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• 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
• 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
• mice have much thinner optic nerves, optic chiasms and optic tracts

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




Genotype
MGI:3797795
cn13
Allelic
Composition
Isl1tm2Gan/Isl1tm2Gan
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:
Isl1tm2Gan mutation (0 available); any Isl1 mutation (16 available)
Tg(Six3-cre)69Frty mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• 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
• 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
• retinal ganglion cells expressing Pou4f2 are lost from the center of the retina to the periphery starting at E17.5
• mice have much thinner optic nerves, optic chiasms and optic tracts

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




Genotype
MGI:3574977
cn14
Allelic
Composition
Bmpr1atm1Bhr/Bmpr1atm2.1Bhr
Bmpr1btm1Kml/Bmpr1btm1Kml
Tg(Six3-cre)69Frty/0
Genetic
Background
involves: 129S/SvEv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm1Bhr mutation (1 available); any Bmpr1a mutation (73 available)
Bmpr1atm2.1Bhr mutation (1 available); any Bmpr1a mutation (73 available)
Bmpr1btm1Kml mutation (0 available); any Bmpr1b mutation (15 available)
Tg(Six3-cre)69Frty mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation
• at E12.5 the margin of the pigment epithelium is rough and a ventral discontinuity of the pigment is seen

vision/eye
• beginning at E11.25-E11.50 excess apoptosis is seen throughout the retina
• 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
• beginning at E11.25-E11.50 the retinal neuroectoderm is thinner
• at E12.5 the margin of the pigment epithelium is rough and a ventral discontinuity of the pigment is seen
• eyes are small at E12.5 and absent at birth

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




Genotype
MGI:3574976
cn15
Allelic
Composition
Bmpr1atm1Bhr/Bmpr1atm2.1Bhr
Bmpr1btm1Kml/Bmpr1b+
Tg(Six3-cre)69Frty/0
Genetic
Background
involves: 129S/SvEv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm1Bhr mutation (1 available); any Bmpr1a mutation (73 available)
Bmpr1atm2.1Bhr mutation (1 available); any Bmpr1a mutation (73 available)
Bmpr1btm1Kml mutation (0 available); any Bmpr1b mutation (15 available)
Tg(Six3-cre)69Frty mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• many dorsal retinal ganglion cell axons form ectopic termination zones
• eye size and retinal layer morphology are normal

nervous system
• many dorsal retinal ganglion cell axons form ectopic termination zones
• eye size and retinal layer morphology are normal




Genotype
MGI:3838794
cn16
Allelic
Composition
Pou4f2tm4Whk/Pou4f2tm4Whk
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:
Pou4f2tm4Whk mutation (0 available); any Pou4f2 mutation (1 available)
Tg(Six3-cre)69Frty mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• clearly abnormal in 16 day old mice
• thinner with smaller diameter fibers
• unmyelinated fibers
• deformed at E14.5
• overall structure remains normal through 5 months of age
• reduced cell proliferation and increased apoptosis
• more than 98% of retinal ganglion cells ablated at E14.5
• only displaced amacrine cells present at 16 days of age
• noticeably thinner at E14.5
• 30-50% thinner than controls at 16 days of age
• 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
• clearly abnormal in 16 day old mice
• thinner with smaller diameter fibers
• unmyelinated fibers
• deformed at E14.5




Genotype
MGI:3620093
cn17
Allelic
Composition
Chmtm1.1Seab/Chmtm1.1Seab
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:
Chmtm1.1Seab mutation (0 available); any Chm mutation (9 available)
Tg(Six3-cre)69Frty mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• no depigmentation in the retinal pigment layer
• significantly shorter than normal
• 7-8 nuclei thick at 2 months of age
• 4-5 nuclei thick at 4 months of age
• single flash electroretinography shows the loss of "a" waves

nervous system
• significantly shorter than normal

Mouse Models of Human Disease
OMIM ID Ref(s)
Choroideremia; CHM 303100 J:105458




Genotype
MGI:3620094
cn18
Allelic
Composition
Chmtm1.1Seab/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:
Chmtm1.1Seab mutation (0 available); any Chm mutation (9 available)
Tg(Six3-cre)69Frty mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• no depigmentation in the retinal pigment layer
• significantly shorter than normal
• 7-8 nuclei thick at 2 months of age
• 4-5 nuclei thick at 4 months of age
• single flash electroretinography shows the loss of "a" waves

nervous system
• significantly shorter than normal

Mouse Models of Human Disease
OMIM ID Ref(s)
Choroideremia; CHM 303100 J:105458




Genotype
MGI:3717378
cn19
Allelic
Composition
Ntrk2tm2Lfr/Ntrk2tm2Lfr
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:
Ntrk2tm2Lfr mutation (1 available); any Ntrk2 mutation (38 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
• 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
• at P28, mice have fewer numbers of ON retinal ganglion cells (RGCs) dendritic branches
• 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




Genotype
MGI:4398744
cn20
Allelic
Composition
Hbegftm1Hhar/Hbegftm1Hhar
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:
Hbegftm1Hhar mutation (0 available); any Hbegf mutation (15 available)
Tg(Six3-cre)69Frty mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• 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
• in a Y maze, mice display a significant decrease in alternation compared to control mice
• mice are more active than control mice over the 24-hr period (both dark and light phases)
• 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
• 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
• the number of spines per 10 mm of dendritic segment are lower in KO than in control mice
• 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




Genotype
MGI:3574975
cn21
Allelic
Composition
Bmpr1atm1Bhr/Bmpr1atm2.1Bhr
Tg(Six3-cre)69Frty/0
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm1Bhr mutation (1 available); any Bmpr1a mutation (73 available)
Bmpr1atm2.1Bhr mutation (1 available); any Bmpr1a mutation (73 available)
Tg(Six3-cre)69Frty mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
N
• no overt eye abnormalities are seen, the retinal layers and retinotectal projections are normal





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last database update
09/13/2016
MGI 6.05
The Jackson Laboratory