Phenotypes Associated with This Genotype

Genotype
MGI:5448462

• Allelic Composition: Tg(NES/TK-PDGFB,-lacZ)310Kfn/0
• Genetic Background: B6.Cg-Tg(NES/TK-PDGFB,-lacZ)310Kfn

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

cellular

increased retina apoptosis ( J:189829 )

• at P5, the number of cleaved caspase 3-positive cells in the retina is increased by 10% compared to wild-type, indicating increased cell death in the retina at this time

vision/eye

eye hemorrhage ( J:189829 )

• blood is frequently seen in the eyeball

increased retina apoptosis ( J:189829 )

• at P5, the number of cleaved caspase 3-positive cells in the retina is increased by 10% compared to wild-type, indicating increased cell death in the retina at this time

iris hypoplasia ( J:189829 )

• at time of eye opening, mutants show uni- or bilateral reduction in the size of eyes and/or irises

persistence of hyaloid vascular system ( J:189829 )

• delay in regression of the hyaloid vasculature

microphthalmia ( J:189829 )

• at time of eye opening, mutants show uni- or bilateral reduction in the size of eyes and/or irises

abnormal retina morphology ( J:189829 )

• retinal folding with frequent attachment to the lens is seen in all mutants after birth

• disorganization of the retinal lamination is seen early in life

abnormal retina vasculature morphology ( J:189829 )

• mutants exhibit failure of retinal vascularization and angiogenesis at P5, remnants of embryonic vasculature is more abundant in the mutant retina, and GFAP staining shows that astrocyte precursors do not spread out to populate the retina in a normal way, resulting in delayed population of the retina by vascular cells and abnormal formation of the network of vessels in the inner retina

• mutants exhibit abnormal development of the retinal capillary network such that at P60, vessels resembling capillaries of varying diameters and thickness grow irregularly into the retina and populate the different retinal layers in a random manner

abnormal retina blood vessel pattern ( J:189829 )

• at P20, the retina is vascularized, although in an irregular fashion

• at P60, the retina shows absence of large trunk vessels

abnormal retina horizontal cell morphology ( J:189829 )

• at P10, the neurites of mutant horizontal cells develop ectopic extensions outside of the outer plexiform layer that reach into and across the outer nuclear layer and on P20, they surround the photoreceptor rosettes

• these ectopic horizontal cell neurites persist even to P60

abnormal retina neuronal layer morphology ( J:189829 )

• the nuclear and plexiform layers can be distinguished from each other but are distorted

abnormal retina photoreceptor morphology ( J:189829 )

• photoreceptor segments fail to develop properly

disorganized retina ganglion layer ( J:189829 )

• the ganglion cell layer is distorted, with local variations in thickness and folding

disorganized retina inner nuclear layer ( J:189829 )

• the inner nuclear layer is distorted, with local variations in thickness and folding

abnormal retina outer nuclear layer morphology ( J:189829 )

• retinas exhibit rosette-like structures in the outer nuclear layer containing the nuclei of photoreceptors, which appear between P5 and P10

increased susceptibility to age-related retinal degeneration ( J:189829 )

• progressive retinal degeneration with increasing age, such that at 2-3 months of age, retinas are markedly thinner and by one year of age, retinas are degenerated completely and consist of only a thin sheet of cells

retina fold ( J:189829 )

• retinal folding with frequent attachment to the lens is seen in all mutants after birth

ocular hypotension ( J:189829 )

• 3-4 month old mutants exhibit a reduction in intraocular pressure

nervous system

abnormal retina horizontal cell morphology ( J:189829 )

• at P10, the neurites of mutant horizontal cells develop ectopic extensions outside of the outer plexiform layer that reach into and across the outer nuclear layer and on P20, they surround the photoreceptor rosettes

• these ectopic horizontal cell neurites persist even to P60

abnormal retina photoreceptor morphology ( J:189829 )

• photoreceptor segments fail to develop properly

abnormal glial cell physiology ( J:189829 )

• retinas show glial activation over time, with exacerbated glial activation by P60

cardiovascular system

abnormal retina vasculature morphology ( J:189829 )

• mutants exhibit failure of retinal vascularization and angiogenesis at P5, remnants of embryonic vasculature is more abundant in the mutant retina, and GFAP staining shows that astrocyte precursors do not spread out to populate the retina in a normal way, resulting in delayed population of the retina by vascular cells and abnormal formation of the network of vessels in the inner retina

• mutants exhibit abnormal development of the retinal capillary network such that at P60, vessels resembling capillaries of varying diameters and thickness grow irregularly into the retina and populate the different retinal layers in a random manner

abnormal retina blood vessel pattern ( J:189829 )

• at P20, the retina is vascularized, although in an irregular fashion

• at P60, the retina shows absence of large trunk vessels

eye hemorrhage ( J:189829 )

• blood is frequently seen in the eyeball

abnormal blood vessel physiology ( J:189829 )

• in approximately 80% of mutants, blood and other fluid often oozes out of the eyes following puncture for retinal dissections, indicating that retinal blood vessels are leaky

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
persistent hyperplastic primary vitreous		DOID:0060282	OMIM:221900 OMIM:611308	J:189829