Phenotypes for Pde6b MGI:3581193 MGI Mouse

vision/eye

abnormal retina vasculature morphology ( J:122722 )

• sclerotic retinal vessels are observed at 4 weeks of age

abnormal retina rod cell morphology ( J:122722 )

retina rod cell degeneration ( J:122722 )

• rod photoreceptor cells start degenerating in the central retina at 16 days of age and in the peripheral retina at 20 days of age

• by 60 days of age no photoreceptors remain

retina outer nuclear layer degeneration ( J:122722 )

• histological analyses show progressive retinal outer nuclear layer degeneration (ONL) beginning in the center at 16 days of age and spreading to the periphery by 20 days of age

increased susceptibility to age-related retinal degeneration ( J:117305 , J:122722 )

• tauroursodeoxycholic acid slows onset of degeneration of retinal outer nuclear layers and photoreceptors (J:117305)

• clinical abnormalities are observable at 4 weeks of age (J:122722)

• histological analyses show progressive retinal outer nuclear layer degeneration (ONL) beginning in the center at 16 days of age and spreading to the periphery by 20 days of age (J:122722)

• by 60 days of age no ONL remains (J:122722)

• nuclei counts in the ONL over time reflects progressive degeneration; inner nuclear layers are not affected (J:122722)

• dark-reared mice showed no degeneration until 24 days of age with initial nuclei loss apparent at 30 days (J:122722)

abnormal eye electrophysiology ( J:117305 , J:122722 )

• ERG a- and b- wave amplitudes are greater in mice treated with tauroursodeoxycholic acid (J:117305)

• mice showed reduced rod and cone responses under both dark- and light-adapted conditions compared to wild-type (J:122722)

• a small a-wave appeared only at the brightest flash intensity indicating loss of sensitivity in dark-adapted, 30 day old mice (J:122722)

• the loss of cone function was not registered as fast by b-wave response from light-adapted compared to dark-adapted mice (J:122722)

cardiovascular system