Phenotypes associated with this allele

• Allele Symbol: Tg(NES/TK-PDGFB,-lacZ)310Kfn
• Allele Name: transgene insertion 310, Karin Forsberg-Nilsson
• Allele ID: MGI:5448202
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
tg1	Tg(NES/TK-PDGFB,-lacZ)310Kfn/0	B6.Cg-Tg(NES/TK-PDGFB,-lacZ)310Kfn	MGI:5448462
tg2	Tg(NES/TK-PDGFB,-lacZ)310Kfn/0	involves: C57BL/6 * CBA	MGI:5448209

Genotype
MGI:5448462

tg1

• 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

Genotype
MGI:5448209

tg2

• Allelic Composition: Tg(NES/TK-PDGFB,-lacZ)310Kfn/0
• Genetic Background: involves: C57BL/6 * CBA

behavior/neurological

increased exploration in new environment ( J:165035 )

♂ • in the transfer arousal test, majority of males start to move immediately unlike wild-type males that freeze briefly before exploring the new environment indicating that males exhibit more explorative behavior

abnormal locomotor coordination ( J:165035 )

♂ • in the wire maneuver test, males performed worse than controls, with only 50% of mutant males able to grip the wire with their hindlimbs compared to 80% of wild-type males indicating decreased ability for locomotor tasks that require coordinated movements

♂ • in the negative geotaxis test, 40% of males turn but then freeze instead of starting to climb the grid compared to 15% of wild-type mice

increased locomotor activity ( J:165035 )

♂ • males exhibit higher overall locomotor activity than wild-type males

cellular

increased apoptosis ( J:165035 )

• striatum of E14.5 mutants contains pyknotic cells that are scattered in the subventricular zone of the lateral ganglionic eminence (LGE) and shows twice as many apoptotic cells in the LGE than in wild-type mice

• however, no differences is apoptotic cells are seen at P0 and P5

nervous system

enlarged lateral ventricles ( J:165035 )

• increase in the size of the lateral ventricles, first detected around P5

• 81% of males show enlarged ventricles while only 36% of females show enlarged ventricles