Mouse Genome Informatics
ot
    Cacna1fnob2/Y
AXB6/PgnJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
vision/eye
• horizontal cell dendrites extend beyond the outer plexiform layer into the outer nuclear layer reaching the retinal pigment epithelium (J:123811)
• rod bipolar cell dendrites extend beyond the outer plexiform layer into the outer nuclear layer, in some cases, dendrites reach the retinal pigment epithelium (J:123811)
• ON-center cells exhibit reduced spontaneous activity to a photopic adapting stimulus as compared to wild-type (J:123811)
• ON-center cells have a reduced dynamic range, although basic center-surround organization is retained (J:123811)
• bipolar and horizontal cells extend ectopic processes into the outer nuclear layer (J:123811)
• small, diffuse punctate staining is observed in the outer nuclear layer using the presynaptic ribbon marker, Ribeye (J:123811)
• in adult mice OPL is disorganized, however, other retinal layers appear normal (J:123811)
• horseshoe shaped structures visualized by immunolabeling using the presynaptic ribbon marker, Ribeye, are missing in mutants and are replaced by small, diffuse punctate staining (J:123811)
• light adapted ERGs are reduced in amplitude and have slower kinetics as compared to control (J:123811)
• implicit time of the b-wave is delayed (J:123811)
• cone ERG amplitude has a distinctive waveform as compared to control (J:123811)
• b-wave is markedly reduced through out the stimulus range in dark-adapted electroretinograms (ERG) in adult mice (J:123811)
• implicit time of the b-wave is delayed (J:123811)
• 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 (J:123811)

nervous system
• horizontal cell dendrites extend beyond the outer plexiform layer into the outer nuclear layer reaching the retinal pigment epithelium (J:123811)
• rod bipolar cell dendrites extend beyond the outer plexiform layer into the outer nuclear layer, in some cases, dendrites reach the retinal pigment epithelium (J:123811)
• ON-center cells exhibit reduced spontaneous activity to a photopic adapting stimulus as compared to wild-type (J:123811)
• ON-center cells have a reduced dynamic range, although basic center-surround organization is retained (J:123811)

Mouse Models of Human Disease
OMIM IDRef(s)
Night Blindness, Congenital Stationary, Type 2A; CSNB2A 300071 J:123811