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Allele Symbol Allele Name Allele ID |
Vax2tm1Grl targeted mutation 1, Greg Lemke MGI:2388160 |
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| Summary |
3 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• about 7% are overtly abnormal displaying reduced body size, tremors, or small eyes
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• about 7% are overtly abnormal displaying reduced body size, tremors, or small eyes
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• expression gradients of axon guidance cues along the nasotemporal axis are flattened or absent; however dorsoventral gradients are maintained
• severity of the dorsalization of the retinal ganglion cell axons becomes less severe in increasingly nasal sections along the nasotemporal axis with termination zones very near the expected location in the most nasal locations
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• dorsal retinal ganglion cell axons project normally; however ventral axon projections are abnormal with axons from the ventral temporal retina most strongly affected
• ventral temporal axons enter the superior colliculus at the lateral rostral edge and form a single termination zone in the lateral rostral superior colliculus rather than in the medial rostal superior colliculus
• severity of the dorsalization of the retinal ganglion cell axons becomes less severe in increasingly nasal sections along the nasotemporal axis with termination zones very near the expected location in the most nasal locations
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• dorsal retinal ganglion cell axons project normally; however ventral axon projections are abnormal with axons from the ventral temporal retina most strongly affected
• ventral temporal axons enter the superior colliculus at the lateral rostral edge and form a single termination zone in the lateral rostral superior colliculus rather than in the medial rostal superior colliculus
• severity of the dorsalization of the retinal ganglion cell axons becomes less severe in increasingly nasal sections along the nasotemporal axis with termination zones very near the expected location in the most nasal locations
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• about 7% are overtly abnormal displaying reduced body size, tremors, or small eyes
• however, no mice display coloboma
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• expression gradients of axon guidance cues along the nasotemporal axis are flattened or absent; however dorsoventral gradients are maintained
• severity of the dorsalization of the retinal ganglion cell axons becomes less severe in increasingly nasal sections along the nasotemporal axis with termination zones very near the expected location in the most nasal locations
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• about 94% die at birth
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• 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
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• 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
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• 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
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• 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
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• 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
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• 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
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/30/2024 MGI 6.23 |
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