Phenotypes Associated with This Genotype

Genotype
MGI:6382980

• Allelic Composition: Rb1cc1^tm1.1Guan/Rb1cc1^tm1.1Guan; Tg(BEST1-cre)1Jdun/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

vision/eye

vision/eye phenotype ( J:282249 )

N • normal retinal outer nuclear layer and total retina thickness at age 2 months

N • normal scotopic and photopic ERGs at age 2 months

N • normal retinal vasculature at age 4 months

N • normal levels of autophagy markers in photoreceptor layer

abnormal retina pigment epithelium morphology ( J:282249 )

• small, white-yellowish structures and patchy atrophy beginning at 4 months

• scattered foci of RPE hyperpigmentation

• invasion of macrophages at age 4 months

• vacuolization at age 8 months

• disorganized at age 8 months

• normal morphology at age 2 months

abnormal retina pigmentation ( J:282249 )

• patchy hyperpigmentation at boundaries with atrophic patches at age 4 months

• hyper-reflective foci above the RPE reflectance layer at age 4 months

retina pigment epithelium atrophy ( J:282249 )

• beginning at 4 months

thin retina outer nuclear layer ( J:282249 )

• at age 8 months

disorganized retina outer nuclear layer ( J:282249 )

• at age 8 months

abnormal retina photoreceptor layer morphology ( J:282249 )

• disorganized at age 8 months

disorganized retina layers ( J:282249 )

• at age 8 months

increased susceptibility to age-related retinal degeneration ( J:282249 )

• age-dependent degeneration secondary to reduced autophagy in retinal pigment epithelium

abnormal Bruch membrane morphology ( J:282249 )

• disrupted at age 8 months

• occasional ingrowth of blood vessels from choroid to outer retina

decreased b-wave amplitude ( J:282249 )

• progressive reduction between age 2 and 8 months with photopic and scotopic ERG

abnormal cone electrophysiology ( J:282249 )

• age-dependent reduction

abnormal rod electrophysiology ( J:282249 )

• age-dependent reduction

cellular

microgliosis ( J:282249 )

• in response to retinal degeneration

impaired autophagy ( J:282249 )

• in the retinal pigment epithelium

hematopoietic system

microgliosis ( J:282249 )

• in response to retinal degeneration

homeostasis/metabolism

impaired autophagy ( J:282249 )

• in the retinal pigment epithelium

immune system

microgliosis ( J:282249 )

• in response to retinal degeneration

nervous system

microgliosis ( J:282249 )

• in response to retinal degeneration

pigmentation

abnormal retina pigment epithelium morphology ( J:282249 )

• small, white-yellowish structures and patchy atrophy beginning at 4 months

• scattered foci of RPE hyperpigmentation

• invasion of macrophages at age 4 months

• vacuolization at age 8 months

• disorganized at age 8 months

• normal morphology at age 2 months

abnormal retina pigmentation ( J:282249 )

• patchy hyperpigmentation at boundaries with atrophic patches at age 4 months

• hyper-reflective foci above the RPE reflectance layer at age 4 months

retina pigment epithelium atrophy ( J:282249 )

• beginning at 4 months

lipofuscinosis ( J:282249 )

• accumulation of lipid-filled vacuoles and mitochondria in the retinal pigment epithelium