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Phenotypes Associated with This Genotype
Genotype
MGI:5634271
Allelic
Composition
Cacna1ftm1.1Sdie/Cacna1ftm1.1Sdie
Genetic
Background
B6.Cg-Cacna1ftm1.1Sdie/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacna1ftm1.1Sdie mutation (1 available); any Cacna1f mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• progressive photoreceptor loss, with rod and cone photoreceptors affected to a similar degree
• moderate reduction in outer nuclear layer (ONL) thickness at 2 and 8 months of age
• increase in the percentage of apoptotic cells in the ONL at P28, however at 2 and 8 months of age, the percentage of apoptotic cells in the retina decreases to wild-type levels, indicating an initial peak of photoreceptor degeneration followed by a steady but moderate degeneration from two months onward
• calcium responses to depolarization of photoreceptor terminals are undetectable
• increase in the percentage of apoptotic cells in the ONL at P28, however at 2 and 8 months of age, the percentage of apoptotic cells in the retina decreases to wild-type levels
• at photopic conditions, flash ERGs are not recordable in mutants
• at scotopic conditions, ERGs display a residual a-wave
• at scotopic conditions, a-wave amplitude is smaller at 2 and 8 months of age
• b-wave in the EEG is absent

nervous system
• progressive photoreceptor loss, with rod and cone photoreceptors affected to a similar degree
• photoreceptor ribbon synapses are abnormal
• cone photoreceptor terminals are either absent or not identifiable as such
• postsynaptic elements and synaptic ribbons are either absent of spherically shaped and free-floating at 2-8 months of age
• the rarely observed anchored rod photoreceptor ribbons are small and club-shaped
• mice exhibit enhanced spouting of rod bipolar- and horizontal cell processes into the ONL already at P14 which peaks at P28 and then declines

cellular
• increase in the percentage of apoptotic cells in the ONL at P28, however at 2 and 8 months of age, the percentage of apoptotic cells in the retina decreases to wild-type levels

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
congenital stationary night blindness 2A DOID:0110871 OMIM:300071
J:212726


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
04/13/2021
MGI 6.16
The Jackson Laboratory