Phenotypes Associated with This Genotype

Genotype
MGI:6259768

• Allelic Composition: Cacna1f^nob9/Cacna1f^nob9
• Genetic Background: B6(PWD)-Cacna1f^nob9/BocJ

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

vision/eye

abnormal ocular fundus morphology ( J:267160 )

• fundus examination shows discrete white dots by 8 months of age, but not at 4 months of age

abnormal retina cone cell morphology ( J:267160 )

• 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

decreased retina cone cell number ( J:267160 )

retina cone cell degeneration ( J:267160 )

thin retina outer plexiform layer ( J:267160 )

• 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

retina spots ( J:267160 )

abnormal electroretinogram waveform feature ( J:267160 )

decreased a-wave amplitude ( J:267160 )

• 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

decreased b-wave amplitude ( J:267160 )

• 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

absent b-wave ( J:267160 )

abnormal cone electrophysiology ( J:267160 )

• neither green nor UV light ERGs elicited any response after 2 months of age

nervous system

abnormal retina cone cell morphology ( J:267160 )

• 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

decreased retina cone cell number ( J:267160 )

retina cone cell degeneration ( J:267160 )

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