All Phenotypes Lpcat1<rd11> MGI Mouse

abnormal ocular fundus morphology ( J:163743 )

abnormal retina vasculature morphology ( J:163743 )

• fundus examination reveals attenuated retinal vessels by 36 days of age

absent photoreceptor outer segment ( J:229509 )

retina photoreceptor degeneration ( J:163743 )

• although histologically normal at 3 weeks of age, there is rapid photoreceptor degeneration thereafter such that by 31 days of age the number of rows of photoreceptor nuclei is diminished from 10-12 to 4-5 and at 47 days of age only one row of nuclei remain

• transmission electron microscopy of retinas at 21 days of age shows that photoreceptor nuclei are less ordered than in C57BL/6J controls

retina cone cell degeneration ( J:163743 )

retina rod cell degeneration ( J:163743 )

thin retina outer nuclear layer ( J:229509 )

• outer nuclear layer is nearly absent, with only one incomplete layer of nuclei in the outer nuclear layer

thin retina outer plexiform layer ( J:229509 )

decreased total retina thickness ( J:229509 )

retina degeneration ( J:163976 , J:229509 )

• histologically evident at 3 weeks of age and at 4 weeks of age there are white retinal vessels (J:163976)

• retinal degeneration by 113 days of age (J:163976)

• treatment with gene replacement therapy (fast-acting tyrosine-capsid mutant AAV8) rescues retinal degeneration (J:229509)

abnormal electroretinogram waveform feature ( J:229509 )

• both scotopic and photopic ERG responses are nearly absent

decreased b-wave amplitude ( J:229509 )

• scotopic and photopic b-wave amplitudes are nearly absent

abnormal eye electrophysiology ( J:163743 , J:163976 )

• electroretinograms show a reduced dark-adapted alpha wave which flattens out at 4 weeks of age, and a light-adapted response that is normal at 3 weeks of age but significantly reduced by 4 and 5 weeks of age (J:163743)

• electroretinograms are nondetectable at 2 months of age (J:163976)

abnormal cone electrophysiology ( J:163743 )

abnormal rod electrophysiology ( J:163743 )

abnormal vision ( J:229509 )

• mice show increased latency time to escape to the platform under room light conditions and under very dim light conditions in the water maze visually-guided behavioral test

abnormal phospholipid level ( J:163743 )

• decreased retinal dipalmitoylphospatidylcholine, platelet activating factor C16 and lyso-platelet activating factor C16