mortality/aging
• mice die at birth
|
vision/eye
• glial progenitor cells are absent from the optic nerves
• optic nerves are thin, hypocellular and surrounded by a thick layer of pigmented cells that are continuous with the pigment epithelium but extend variable distances towards the ventral diencephalons
• optic nerves lack Ntn1- and Pax2-expressing astrocytes and are instead populated by pigment cells interspersed with retinal ganglion cell axons
• the distal two thirds of optic nerves lack Pax2-expressing glial cells
|
• while the optic cup and proximal optic stalk are normal initially, the optic primordial lags behind that in wild-type mice resulting in small eyes
|
• as early as E13
(J:83530)
|
• eyelids fail to close throughout gestation
|
• retinas are extensively disorganized
• the outer retinal layer contains many rosettes containing retinal progenitor cells and immature photoreceptors and, in some cases, cells extrude into the subretinal space
• lamination defects are observed at E17
• however, rosettes do not disrupt the retinal pigment epithelium
|
• retinal ganglion cell (RGC) axons exhibit guidance defects and are misrouted to the sub-retinal spaces in several regions of the retina and at the optic disc
• RGC axons that reach the optic disc never enter the optic nerve and instead remain coiled in the sub-retinal space
• however, dorsal ventral patterning and optic fissure closure are normal
|
nervous system
• mice exhibit mild to severe holoprosencephaly
(J:78708)
• some mice exhibit holoprosencephaly
(J:83530)
• however, development and expression of ventral markers in the hypothalamus are normal
(J:83530)
|
• glial progenitor cells are absent from the optic nerves
• the distal two thirds of optic nerves lack Pax2-expressing glial cells
|
• retinal ganglion cell (RGC) axons exhibit guidance defects and are misrouted to the sub-retinal spaces in several regions of the retina and at the optic disc
• RGC axons that reach the optic disc never enter the optic nerve and instead remain coiled in the sub-retinal space
• however, dorsal ventral patterning and optic fissure closure are normal
|
• glial progenitor cells are absent from the optic nerves
• optic nerves are thin, hypocellular and surrounded by a thick layer of pigmented cells that are continuous with the pigment epithelium but extend variable distances towards the ventral diencephalons
• optic nerves lack Ntn1- and Pax2-expressing astrocytes and are instead populated by pigment cells interspersed with retinal ganglion cell axons
• the distal two thirds of optic nerves lack Pax2-expressing glial cells
|
craniofacial
growth/size/body
microcephaly
(
J:83530
)
• as early as E13
|