Phenotypes for Cfh MGI:5546609 MGI Mouse

abnormal retina morphology ( J:125991 , J:203471 )

• aged mutants exhibit an increase in subretinal/Bruch's membrane region autofluorescence (J:125991)

• increase in C3 deposition in the retina of aged mutants (J:125991)

• 12 month old mutants exhibit large clusters of hyperfluorescent foci in the subretinal space and show an abundance of partially digested fluorescent deposits adjacent to the retinal pigment epithelium (J:203471)

• 12 month old mutants show C3 deposition in the retina and extensive deposition of amyloid beta on the basal side of retinal pigment epithelium (J:203471)

• 3 month old mutants treated in both prophylactic and therapeutic regimes with an anti-amyloid beta monoclonal antibody 6F6 show a reduction in accumulation of both amyloid beta and activated C3 deposition in the retina (J:203471)

abnormal retina rod bipolar cell morphology ( J:125991 )

• rod bipolar cells of aged mutants show more prominent and numerous fine dendrites sprouting into the outer nuclear layer than controls

abnormal retina layer morphology ( J:125991 )

• the interface between the retinal pigmented epithelium cell and the outer segment is abnormal with loss of the intimate relationship between the perpendicular outer segment tips and apical microvilli of the retinal pigmented epithelium

abnormal retina photoreceptor morphology ( J:125991 )

• short-wavelength cone opsin is redistributed from the outer segments to more proximal cell compartments in aged mutants

disorganized photoreceptor outer segment ( J:125991 )

• aged mutants show discrete regions of misaligned, disorganized photoreceptor outer segments

• many outer segments are bent and some lie horizontally along the apical aspect of the retinal pigmented epithelium

abnormal retina pigment epithelium morphology ( J:125991 )

• the distribution of organelles within the retinal pigment epithelial layer is different, with the organelles dispersed throughout the retinal pigment epithelial instead of concentrated toward the apical aspect of the cell as in controls

• older mutants exhibit a decrease in the amount of sub- retinal pigment epithelial electron-dense material

abnormal Bruch membrane morphology ( J:125991 )

• 29% decrease in Bruch's membrane thickness in aged mutants

decreased a-wave amplitude ( J:125991 )

• rod photoreceptor function is impaired in aged mutants as indicated by a reduction in amplitude and change in slope of the a-wave of the ERG

• however, minimal impairment of cone function is seen

decreased b-wave amplitude ( J:125991 )

• electroretinography shows a reduction b-wave amplitudes with increasing stimulus intensity in aged mutants

decreased visual acuity ( J:125991 )

• 2 year old mutants exhibit a greater reduction in visual acuity than controls

amyloid beta deposits ( J:203471 )

• the basal side of retinal pigment epithelium shows extensive deposition of amyloid beta in 10 week and 12 month old mutants

• increase in the rate of amyloid beta deposition at 3, 6, and 12 months of age compared to controls

• 3 month old mutants treated in both prophylactic and therapeutic regimes with an anti-amyloid beta monoclonal antibody 6F6 show a reduction in accumulation of both amyloid beta and activated C3 deposition in the retina