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Phenotypes Associated with This Genotype
Genotype
MGI:5586971
Allelic
Composition
Cd46tm1Atk/Cd46tm1Atk
Genetic
Background
B6.129-Cd46tm1Atk
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cd46tm1Atk mutation (0 available); any Cd46 mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• the retina and choroid show an increase in staining for the membrane attack complex of complement, with increased deposition on the inner surface of the retina and the basal surface of RPE cells (J:213630)
• 73% of mice exhibit excessive number of cells in the subretinal space (J:234294)
• shortening of the inner portion of the photoreceptor is seen close to apoptotic bodies in ONL
• 12 month old mice exhibit a reduction of total rhodopsin, indicating a reduction in photoreceptors
• 60% of mice accumulate lipofuscin granules in the retinal pigment epithelium (RPE) with age
• the size of the RPE layer from apical to basal surface is increased in 58% of 12 month old mice
• increase in the number of vacuoles in the RPE cytoplasm
• vesicles and autophagosomes containing cellular organelles are seen in RPE cells
• increase in membrane attack complex deposition on the RPE-choroid of both males and females, indicating dysregulated complement activation in the eye
• the outer nuclear layer (ONL) shows a few apoptotic bodies at 2 months of age with a larger increase at 12 months of age
• the density of nuclei in the ONL is reduced in 12, but not 2, month old mice indicating loss of nuclei
• age-related degenerative changes in the retina and retinal pigment epithelium
• 12 month old mice exhibit zones of hypercellularity in the choroid
• lumen of choroidal capillaries is reduced
• some choroidal endothelial cells have no lumen or cytoplasmic fenestrae at 12 months
• 80% of mice exhibit diminution of the chriocapillaris by 12 months of age
• mice are more susceptible to laser-induced choroidal neovascularization than wild-type
• Bruchs membrane is irregular with local deposition of electron dense material in 12 month old mice
• increase in thickness of Bruchs membrane in 12 month old mice

nervous system
• shortening of the inner portion of the photoreceptor is seen close to apoptotic bodies in ONL
• 12 month old mice exhibit a reduction of total rhodopsin, indicating a reduction in photoreceptors

pigmentation
• 60% of mice accumulate lipofuscin granules in the retinal pigment epithelium (RPE) with age
• the size of the RPE layer from apical to basal surface is increased in 58% of 12 month old mice
• increase in the number of vacuoles in the RPE cytoplasm
• vesicles and autophagosomes containing cellular organelles are seen in RPE cells
• increase in membrane attack complex deposition on the RPE-choroid of both males and females, indicating dysregulated complement activation in the eye

cardiovascular system
• lumen of choroidal capillaries is reduced
• some choroidal endothelial cells have no lumen or cytoplasmic fenestrae at 12 months
• 80% of mice exhibit diminution of the chriocapillaris by 12 months of age
• mice are more susceptible to laser-induced choroidal neovascularization than wild-type

reproductive system
N
• mice are viable, develop normally, and are fertile

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
age related macular degeneration DOID:10871 OMIM:PS603075
J:234294


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
12/10/2024
MGI 6.24
The Jackson Laboratory