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Phenotypes Associated with This Genotype
Genotype
MGI:4412191
Allelic
Composition
Fzd4tm1Nat/Fzd4tm1Nat
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fzd4tm1Nat mutation (1 available); any Fzd4 mutation (31 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• rod and cone signals are not transmitted effectively
• vascular development on the vitreal face of the retina is retarded
• retinal mural cells are thinner and lower in density than in controls
• electroretinogram a wave is relatively normal
• electroretinogram b wave is markedly reduced

behavior/neurological
• rod and cone signals are not transmitted effectively
• rod and cone signals are not transmitted effectively

nervous system
• progressive reduction in vascular density in the cerebellum
• misshapen capillaries in the cerebellum
• endothelial projections into the capillary lumen in the cerebellum
• leakage of IgG into the cerebellum
• frequent cerebellar hemorrhage but not in cerebral cortex
• cerebellar degeneration observed

cardiovascular system
• progressive reduction in vascular density in the cerebellum
• misshapen capillaries in the cerebellum
• endothelial projections into the capillary lumen in the cerebellum
• leakage of IgG into the cerebellum
• frequent cerebellar hemorrhage but not in cerebral cortex
• vascular development on the vitreal face of the retina is retarded
• retinal mural cells are thinner and lower in density than in controls

renal/urinary system
• at E18.5

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
exudative vitreoretinopathy DOID:0050535 OMIM:PS133780
J:158585


Contributing Projects:
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
11/05/2024
MGI 6.24
The Jackson Laboratory