Phenotypes for Cacna1f MGI:5550383 MGI Mouse

abnormal retina bipolar cell morphology ( J:206214 )

• irregular outgrowth of bipolar cell neurites

abnormal retina horizontal cell morphology ( J:206214 )

• irregular outgrowth of horizontal cell neurites into the outer nuclear layer

abnormal retina cone cell morphology ( J:206214 )

• cone outer segments appear disorganized

retina cone cell degeneration ( J:206214 )

abnormal retina inner plexiform layer morphology ( J:206214 )

• marker analysis indicates compromised morphology of rod bipolar cell synapses in the inner plexiform layer

abnormal retina outer nuclear layer morphology ( J:206214 )

• rod bipolar cell dendrites extend beyond the outer plexiform layer, far into the outer nuclear layer unlike in wild-type mice where they are restricted to the outer plexiform layer

• horizontal cell neurites extend far into the outer nuclear layer which is not seen in wild-type mice

abnormal retina outer plexiform layer morphology ( J:206214 )

• horizontal cell bodies are reduced in the outer plexiform layer and numerous elongated horizontal cell neurites extend far into the outer nuclear layer

• loss of cone pedicles in the outer plexiform layer

thin retina outer plexiform layer ( J:206214 )

retina gliosis ( J:206214 )

• reactive gliosis in Muller glial cells

abnormal b-wave shape ( J:206214 )

• both in the dark-adapted (scotopic) and light-adapted (photopic) part of the ERG, the b-wave component and oscillatory potentials are completely absent compared to wild-type mice throughout the stimulus range, indicating a defect in neurotransmission from both rod and cone photoreceptors

• however, the amplitude and threshold of the a-wave is similar to wild-type

abnormal vision ( J:206214 )

• in the vision-guided water-maze task, mice have an increased latency to navigate to a visible platform under both dark and normal light conditions

• in about 38% of the trials in the dark and about 27% of trials during light, mutants do not find the platform within the 2 minute test period compared to wild-type mice which all find the platform

• in contrast to wild-type mice, mutants show no improvement in finding the platform during 3 successive test days under dark or on the 4th test day under normal light

• swimming path of mutants in the vision-guided water-maze task is much longer than in wild-type mice

blindness ( J:206214 )

• ERG and behavioral tests indicate that mice are essentially blind