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Phenotypes Associated with This Genotype
Genotype
MGI:6259768
Allelic
Composition
Cacna1fnob9/Cacna1fnob9
Genetic
Background
B6(PWD)-Cacna1fnob9/Boc
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacna1fnob9 mutation (1 available); any Cacna1f mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• fundus examination shows discrete white dots by 8 months of age, but not at 4 months of age
• after 2 months of age S-opsin and M-opsin expressing cone cells decrease in number such that at 14 months of age the counts for S-opsin are diminshed to 54% of control and for M-opsin almost indetectable
• the outer plexiform layer appears to form normally but shows diminished thickness by 14 days of age and is nearly absent by 2 months of age
• scotopic ERG responses at 2 months of age show an a-wave about half the normal amplitude, and this amplitude decreases with age with only 27% of control amplitude remaining at 14 months of age
• by one month of age the b-wave is severely diminished but not absent and there are small oscillatory potentials on the flat b-wave, and from 2 months of age on there is little to no waveform resonse in photopic ERGs
• neither green nor UV light ERGs elicited any response after 2 months of age

nervous system
• after 2 months of age S-opsin and M-opsin expressing cone cells decrease in number such that at 14 months of age the counts for S-opsin are diminshed to 54% of control and for M-opsin almost indetectable

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
congenital stationary night blindness 2A DOID:0110871 OMIM:300071
J:267160


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
02/23/2021
MGI 6.16
The Jackson Laboratory