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Phenotypes Associated with This Genotype
Genotype
MGI:3720002
Allelic
Composition
Cacna1fnob2/Y
Genetic
Background
AXB6/PgnJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacna1fnob2 mutation (1 available); any Cacna1f mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• rod bipolar cell dendrites extend beyond the outer plexiform layer into the outer nuclear layer, in some cases, dendrites reach the retinal pigment epithelium
• ON-center cells exhibit reduced spontaneous activity to a photopic adapting stimulus as compared to wild-type
• ON-center cells have a reduced dynamic range, although basic center-surround organization is retained
• horizontal cell dendrites extend beyond the outer plexiform layer into the outer nuclear layer reaching the retinal pigment epithelium
• bipolar and horizontal cells extend ectopic processes into the outer nuclear layer
• small, diffuse punctate staining is observed in the outer nuclear layer using the presynaptic ribbon marker, Ribeye
• in adult mice OPL is disorganized, however, other retinal layers appear normal
• horseshoe shaped structures visualized by immunolabeling using the presynaptic ribbon marker, Ribeye, are missing in mutants and are replaced by small, diffuse punctate staining
• cone ERG amplitude has a distinctive waveform as compared to control
• light adapted ERGs are reduced in amplitude and have slower kinetics as compared to control
• implicit time of the b-wave is delayed
• b-wave is markedly reduced through out the stimulus range in dark-adapted electroretinograms (ERG) in adult mice
• implicit time of the b-wave is delayed
• a-waves (between -1.2 and 0.0 log cd s/m2) are larger as compared to control, however, maximum a-wave amplitude does not differ from control

nervous system
• rod bipolar cell dendrites extend beyond the outer plexiform layer into the outer nuclear layer, in some cases, dendrites reach the retinal pigment epithelium
• ON-center cells exhibit reduced spontaneous activity to a photopic adapting stimulus as compared to wild-type
• ON-center cells have a reduced dynamic range, although basic center-surround organization is retained
• horizontal cell dendrites extend beyond the outer plexiform layer into the outer nuclear layer reaching the retinal pigment epithelium

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
congenital stationary night blindness 2A DOID:0110871 OMIM:300071
J:123811


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
04/06/2021
MGI 6.16
The Jackson Laboratory