Phenotypes Associated with This Genotype

Genotype
MGI:3814819

• Allelic Composition: Ccl2^tm1Rol/Ccl2^tm1Rol; Cx3cr1^tm1Zm/Cx3cr1^tm1Zm
• Genetic Background: involves: 129 * 129S4/SvJae

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

vision/eye

choroidal neovascularization ( J:126935 )

• beginning as early as 12 weeks of age,15% of mice exhibit neovascularization of the choroid unlike in wild-type mice

• choroidal neovascular vessels that penetrate Bruch membrane and enter the outer retinal layers are surrounded by hyperplastic retinal pigmented epithelium cells or atrophic retinal pigmented epithelium areas

abnormal retina morphology ( J:126935 )

• microglial infiltrates are observed in retinal lesions

disorganized photoreceptor outer segment ( J:126935 )

retina photoreceptor degeneration ( J:126935 )

• severity increases with age

abnormal retina pigment epithelium morphology ( J:126935 )

• unlike in wild-type mice, vacuolation of the retinal pigmented epithelium (RPE) is observed

• mice exhibit a reduction in melanosomes and an increase in lipofuscin in the RPE unlike in wild-type mice

abnormal retina pigmentation ( J:126935 )

• unlike in wild-type mice, local hypopigmentation of the retina is observed

retina pigment epithelium atrophy ( J:126935 )

• in some areas with severity increasing with age

retina pigment epithelium hyperplasia ( J:126935 )

• in some areas

retina deposits ( J:126935 )

• by 6 to 9 weeks, mice exhibit drusen-like lesions with heterogeneous, round or domed-shaped, soft-bordered yellowish deposits within the subretina not observed in wild-type mice

• retinal depositions enlarge or flatten and become confluent with age

abnormal Bruch membrane morphology ( J:126935 )

• beginning at 8 weeks of age, mice exhibit focal thickening in the Bruch membrane compared to wild-type mice

reproductive system

decreased litter size ( J:126935 )

• average litter size is half of wild-type

nervous system

disorganized photoreceptor outer segment ( J:126935 )

retina photoreceptor degeneration ( J:126935 )

• severity increases with age

pigmentation

variable depigmentation ( J:126935 )

• 20% of mice exhibit patchy skin depigmentation on the face and upper extremities

abnormal retina pigment epithelium morphology ( J:126935 )

• unlike in wild-type mice, vacuolation of the retinal pigmented epithelium (RPE) is observed

• mice exhibit a reduction in melanosomes and an increase in lipofuscin in the RPE unlike in wild-type mice

abnormal retina pigmentation ( J:126935 )

• unlike in wild-type mice, local hypopigmentation of the retina is observed

retina pigment epithelium atrophy ( J:126935 )

• in some areas with severity increasing with age

retina pigment epithelium hyperplasia ( J:126935 )

• in some areas

cardiovascular system

choroidal neovascularization ( J:126935 )

• beginning as early as 12 weeks of age,15% of mice exhibit neovascularization of the choroid unlike in wild-type mice

• choroidal neovascular vessels that penetrate Bruch membrane and enter the outer retinal layers are surrounded by hyperplastic retinal pigmented epithelium cells or atrophic retinal pigmented epithelium areas

integument

variable depigmentation ( J:126935 )

• 20% of mice exhibit patchy skin depigmentation on the face and upper extremities

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
age related macular degeneration		DOID:10871	OMIM:PS603075	J:126935