Phenotypes associated with this allele

• Allele Symbol: Igs1^{tm11(CAG-Bgeo,-Edn2)Nat}
• Allele Name: targeted mutation 11, Jeremy Nathans
• Allele ID: MGI:5544083
• Summary: 7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Igs1^tm11(CAG-Bgeo,-Edn2)Nat/Igs1^+ Foxg1^tm1(cre)Skm/Foxg1^+	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5544092
cn2	Igs1^tm11(CAG-Bgeo,-Edn2)Nat/Igs1^+ Tg(Pdgfra-cre)1Clc/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5544087
cn3	Igs1^tm11(CAG-Bgeo,-Edn2)Nat/Igs1^+ Tg(Pax6-cre,GFP)2Pgr/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5544088
cn4	Ednrb^tm1.1Nat/Ednrb^tm1.2Nat Igs1^tm11(CAG-Bgeo,-Edn2)Nat/Igs1^+ Tg(Pax6-cre,GFP)2Pgr/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5544090
cn5	Igs1^tm11(CAG-Bgeo,-Edn2)Nat/Igs1^+ Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:5544091
cn6	Igs1^tm11(CAG-Bgeo,-Edn2)Nat/Igs1^+ Tg(Six3-cre)69Frty/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2	MGI:5544086
cn7	Igs1^tm11(CAG-Bgeo,-Edn2)Nat/Igs1^+ Tg(KRT5-cre)5132Jlj/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2J	MGI:5544094

Genotype
MGI:5544092

cn1

• Allelic Composition: Igs1^{tm11(CAG-Bgeo,-Edn2)Nat}/Igs1⁺; Foxg1^tm1(cre)Skm/Foxg1⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6

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

Absence of vascular defects in the brains of embryonic day 18 Igs1^{tm11(CAG-Bgeo,-Edn2)Nat}/Igs1⁺ Foxg1^tm1(cre)Skm/Foxg1⁺

mortality/aging

postnatal lethality ( J:201133 )

• early postnatal lethality

craniofacial

cleft palate ( J:201133 )

vision/eye

failure of eyelid fusion ( J:201133 )

digestive/alimentary system

cleft palate ( J:201133 )

growth/size/body

cleft palate ( J:201133 )

Genotype
MGI:5544087

cn2

• Allelic Composition: Igs1^{tm11(CAG-Bgeo,-Edn2)Nat}/Igs1⁺; Tg(Pdgfra-cre)1Clc/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Interstitial tip cells in adult Igs1^{tm11(CAG-Bgeo,-Edn2)Nat}/Igs1⁺ Tg(Pdgfra-cre)1Clc/0 retinas

vision/eye

abnormal retina vasculature morphology ( J:201133 )

• intraretinal capillaries are larger and more numerous; however a large number of these terminate with blind endings

• blind endings are most numerous in the inner plexiform layer and are typically decorated with multiple filopodia

cardiovascular system

abnormal retina vasculature morphology ( J:201133 )

• intraretinal capillaries are larger and more numerous; however a large number of these terminate with blind endings

• blind endings are most numerous in the inner plexiform layer and are typically decorated with multiple filopodia

Genotype
MGI:5544088

cn3

• Allelic Composition: Igs1^{tm11(CAG-Bgeo,-Edn2)Nat}/Igs1⁺; Tg(Pax6-cre,GFP)2Pgr/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Spatially localized Edn2 expression results in local inhibition of retinal vascular development in Igs1^{tm11(CAG-Bgeo,-Edn2)Nat}/Igs1⁺ Tg(Pax6-cre,GFP)2Pgr/0 mice

vision/eye

abnormal retina morphology ( J:201133 )

• regional thinning of all three layers in the peripheral retina

abnormal retina vasculature morphology ( J:201133 )

• intraretinal capillaries are rarely seen in the peripheral retina

• numerous filopodia-bearing endothelial cells are seen at the boundary between the vascularized central retina and the nearly avascular peripheral retina

thin retina ganglion layer ( J:201133 )

• in the peripheral retina

thin retina inner nuclear layer ( J:201133 )

• in the peripheral retina

thin retina outer nuclear layer ( J:201133 )

• in the peripheral retina

homeostasis/metabolism

hypoxia ( J:201133 )

• in the peripheral retina

cardiovascular system

abnormal retina vasculature morphology ( J:201133 )

• intraretinal capillaries are rarely seen in the peripheral retina

• numerous filopodia-bearing endothelial cells are seen at the boundary between the vascularized central retina and the nearly avascular peripheral retina

Genotype
MGI:5544090

cn4

• Allelic Composition: Ednrb^tm1.1Nat/Ednrb^tm1.2Nat; Igs1^{tm11(CAG-Bgeo,-Edn2)Nat}/Igs1⁺; Tg(Pax6-cre,GFP)2Pgr/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

vision/eye

abnormal retina vasculature morphology ( J:201133 )

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

cardiovascular system

abnormal retina vasculature morphology ( J:201133 )

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

Genotype
MGI:5544091

cn5

• Allelic Composition: Igs1^{tm11(CAG-Bgeo,-Edn2)Nat}/Igs1⁺; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

Inhibition of vascular development and midgestational lethality in Igs1^{tm11(CAG-Bgeo,-Edn2)Nat}/Igs1⁺ Edil3^{Tg(Sox2-cre)1Amc}/0 embryos

mortality/aging

prenatal lethality ( J:201133 )

cardiovascular system

abnormal vascular development ( J:201133 )

• near complete absence of vascular development at E9.5

enlarged heart ( J:201133 )

• at E9.5-E10.5

internal hemorrhage ( J:201133 )

• pooling of blood in the head and thorax at E9.5-E10.5

embryo

embryonic growth retardation ( J:201133 )

• mild growth retardation at E8.5 and severe retardation at E9.5-E10.5

open neural tube ( J:201133 )

• at E9.5-E10.5

growth/size/body

enlarged heart ( J:201133 )

• at E9.5-E10.5

embryonic growth retardation ( J:201133 )

• mild growth retardation at E8.5 and severe retardation at E9.5-E10.5

nervous system

open neural tube ( J:201133 )

• at E9.5-E10.5

Genotype
MGI:5544086

cn6

• 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

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

Genotype
MGI:5544094

cn7

• Allelic Composition: Igs1^{tm11(CAG-Bgeo,-Edn2)Nat}/Igs1⁺; Tg(KRT5-cre)5132Jlj/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2J

Absence of vascular defects in the skin of adult Igs1^{tm11(CAG-Bgeo,-Edn2)Nat}/Igs1⁺ Tg(KRT5-cre)5132Jlj/0 mice

integument

abnormal dermal pigmentation ( J:201133 )

• massive increase in dermal pigmentation

pigmentation

abnormal dermal pigmentation ( J:201133 )

• massive increase in dermal pigmentation