Analysis Tools|
Allele Symbol Allele Name Allele ID |
Vax1tm1Grl targeted mutation 1, Greg Lemke MGI:1859863 |
||||||||||||||||
| Summary |
3 genotypes
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• most die at birth
|
|
• fully penetrant and variable severity with the secondary palate almost always involved
|
|
• in neural stem cell cultures isolated from the lateral ganglionic eminence at E15.5 cell proliferation is markedly increased; however, in cultures isolated at P0 growth rates are similar to wild-type
|
|
• retinal ganglion cell axons and axons that form the corpus callosum fail to cross the midline and are instead deflected to form whorl-shaped bundles
• at E12 expression of Netrin-1 is reduced in the optic disk and nearly undetectable in the optic stalk and by E14 expression is undetectable in both tissues
• mutant optic stalk explants tend to repel rather than attract axons from wild-type or mutant retinal explants
|
|
• axons that would normally cross the midline instead form large whorls or Probst bundles
• however, commissures connecting the superior colliculi form normally
|
|
• severely hypoplastic
• at P20 the oflactory bulb lacks glomeruli and has fewer, disorganized mitral cells, but innervation is similar to wild-type
|
|
• precursors of olfactory bulb cells proliferate but most fail to migrate and/or properly differentiate and instead accumulate in the subventricular zone
|
|
• at P20 in 90% of mice the rostral migratory stream is absent with the remainder having a very faint but recognizable stream
• migration of cells from the subventricular zone to the olfactory bulb is very inefficient
• in organotypic cultures from P0 mice, no DiI-labeled cells migrate out of the subventricular zone, unlike in wild-type cultures
|
|
• at P0 the subventricular zone is expanded about 10-fold and rich in ER81+ cells
• at P0 the distribution of proliferating cell is abnormal with more cells located in the periventricular area and fewer cells protruding anteriorly
• at P15 the anterior subventricular zone is absent and the subventricular zone is comprised of a thick layer of cells and is about 10 times the size of wild-type
• at P15 increased apoptosis is detected
• at P20 astrocyte differentiation is impaired
|
|
• at P20, most cells in the medial and lateral ganglionic eminences are highly undifferentiated (monociliated) rather than differentiated (multiciliated) as in wild-type subventricular zones
|
|
• expansion of ER81+ cells (precursors of olfactory bulb granule and periglomular cells) at the expense of ISL1+ cells (precursors of projection neurons in the corpus striatum) in the lateral ganglionic eminence at E15.5
• at P20, the lateral and medial ganglionic eminences are still identifiable unlike in wild-type mice
|
|
• retinal ganglion cell axons are devoid of astrocytes and the astrocytes are displaced to the periphery of the nerve
• geometric arrangement of axons and glia varies with bundles of bare axons sometimes central and in other cases displaced
• however the number of glial cells in the optic stalk is similar to wild-type
|
|
• retinal ganglion cell axons fail to penetrate the hypothalamus and instead form bulb-shaped whorls that are physically isolated from the brain
• these whorls are first seen around E14.5
• a few axons escape these whorls and project ipsilaterally through preoptic regions; however these axons still fail to cross the midline
|
|
• retinal ganglion cell axons are devoid of astrocytes and the astrocytes are displaced to the periphery of the nerve
• geometric arrangement of axons and glia varies with bundles of bare axons sometimes central and in other cases displaced
• however the number of glial cells in the optic stalk is similar to wild-type
|
|
• retinal ganglion cell axons fail to penetrate the hypothalamus and instead form bulb-shaped whorls that are physically isolated from the brain
• these whorls are first seen around E14.5
• a few axons escape these whorls and project ipsilaterally through preoptic regions; however these axons still fail to cross the midline
|
|
• at E13.5 retinal ganglion cell axons are confined to a small portion of the optic stalk from which glial precursors are excluded
• however, dorsal-ventral and nasal-temporal axis patterning of the optic disk and stalk are similar to wild-type
|
|
• bilateral coloboma seen at E13
• frequently retinal pigment epithelial cells and other retinal cells are seen along the entire length of the optic nerve as a result of abnormal migration through the open optic disk
|
|
• fully penetrant and variable severity with the secondary palate almost always involved
|
|
• in neural stem cell cultures isolated from the lateral ganglionic eminence at E15.5 cell proliferation is markedly increased; however, in cultures isolated at P0 growth rates are similar to wild-type
|
|
• retinal ganglion cell axons and axons that form the corpus callosum fail to cross the midline and are instead deflected to form whorl-shaped bundles
• at E12 expression of Netrin-1 is reduced in the optic disk and nearly undetectable in the optic stalk and by E14 expression is undetectable in both tissues
• mutant optic stalk explants tend to repel rather than attract axons from wild-type or mutant retinal explants
|
|
• fully penetrant and variable severity with the secondary palate almost always involved
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• about 94% die at birth
|
|
• at E18.5 the area normally occupied by the nerve is instead replaced by doubled-over retinal tissue that extends to the midline of the brain
• this ectopic retina is still present at P7 and contains all major subgroups of retinal cells
|
|
• retinal ganglion cell axons run in 2 parallel streams (corresponding to the inner surface of the doubled-over retinal ganglion cell layer) that fail to cross the midline to form an optic chiasm
|
|
• at E18.5 the area normally occupied by the nerve is instead replaced by doubled-over retinal tissue that extends to the midline of the brain
• this ectopic retina is still present at P7 and contains all major subgroups of retinal cells
|
|
• retinal ganglion cell axons run in 2 parallel streams (corresponding to the inner surface of the doubled-over retinal ganglion cell layer) that fail to cross the midline to form an optic chiasm
|
|
• expansion of the ventral neuroepithelium in the optic stalk apparent at E10 blocks ventral expansion of the retinal pigment epithelium and closure of the optic disk
• increased proliferation of astrocyte precursors but not retinal progenitor cells at E12.5
• at E12.5, ventral retinal tissue extends all the way to the midline of the CNS
|
|
• fully penetrant and very severe at E13.5
• severity is increased compared to single homozygotes
• the boundary between the retina and the optic nerve is absent
• retinal pigment epithelium and neural retina are found throughout the optic nerve
|
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
||
|
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support. |
last database update 11/12/2024 MGI 6.24 |
|
|
|
||
