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Phenotypes Associated with This Genotype
Genotype
MGI:3838721
Allelic
Composition
Cacna1ftm1.1Sdie/Cacna1ftm1.1Sdie
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacna1ftm1.1Sdie mutation (1 available); any Cacna1f mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• irregular outgrowth of bipolar cell neurites
• irregular outgrowth of horizontal cell neurites into the outer nuclear layer
• cone outer segments appear disorganized
• marker analysis indicates compromised morphology of rod bipolar cell synapses in the inner plexiform layer
• 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
• 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
• reactive gliosis in Muller glial cells
• 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
• 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
• ERG and behavioral tests indicate that mice are essentially blind

nervous system
• irregular outgrowth of bipolar cell neurites
• irregular outgrowth of horizontal cell neurites into the outer nuclear layer
• cone outer segments appear disorganized
• marker analysis indicates disturbed synaptic contacts between photoreceptors and second order neurons and indicates a retraction of photoreceptor synapses from the outer plexiform layer into the outer nuclear layer
• loss of cone pedicles in the outer plexiform layer

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
congenital stationary night blindness 2A DOID:0110871 OMIM:300071
J:206214


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory