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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Vax2tm1Grl
targeted mutation 1, Greg Lemke
MGI:2388160
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Vax2tm1Grl/Vax2tm1Grl involves: 129S1/Sv MGI:3687872
hm2
Vax2tm1Grl/Vax2tm1Grl involves: 129S1/Sv * C57BL/6 MGI:3687871
cx3
Vax1tm1Grl/Vax1tm1Grl
Vax2tm1Grl/Vax2tm1Grl
involves: 129S1/Sv MGI:3687874


Genotype
MGI:3687872
hm1
Allelic
Composition
Vax2tm1Grl/Vax2tm1Grl
Genetic
Background
involves: 129S1/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Vax2tm1Grl mutation (0 available); any Vax2 mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• rare and mild at E13.5




Genotype
MGI:3687871
hm2
Allelic
Composition
Vax2tm1Grl/Vax2tm1Grl
Genetic
Background
involves: 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Vax2tm1Grl mutation (0 available); any Vax2 mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• about 7% are overtly abnormal displaying reduced body size, tremors, or small eyes

growth/size/body
• about 7% are overtly abnormal displaying reduced body size, tremors, or small eyes

nervous system
• 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
• 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

vision/eye
• 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
• about 7% are overtly abnormal displaying reduced body size, tremors, or small eyes
• however, no mice display coloboma

cellular
• 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




Genotype
MGI:3687874
cx3
Allelic
Composition
Vax1tm1Grl/Vax1tm1Grl
Vax2tm1Grl/Vax2tm1Grl
Genetic
Background
involves: 129S1/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Vax1tm1Grl mutation (0 available); any Vax1 mutation (14 available)
Vax2tm1Grl mutation (0 available); any Vax2 mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• about 94% die at birth

craniofacial

nervous system
• 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

vision/eye
• 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

digestive/alimentary system

growth/size/body





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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory