Mouse Genome Informatics
hm
    Cacna1ftm1Ntbh/Cacna1ftm1Ntbh
B6.129-Cacna1ftm1Ntbh
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
vision/eye
• calbindin labeling of horizontal cells is reduced in the outer plexiform layer and horizontal cell processes extend into the outer nuclear layer (J:102753)
• rod bipolar cell bodies appear flattened and rougher compared to wild-type (J:102753)
• axon terminals appear irregular and dendritic appendages extend beyond the outer plexiform layer into the outer nuclear layer (J:102753)
• the outer plexiform layer is thinner (J:102753)
• under scotopic conditions electroretinograms for mutant mice show poor and inconsistent responses with no detectable b-wave or oscillatory potentials (J:102753)
• under photopic conditions no reliable response is seen in mutant electroretinograms (J:102753)
• peak calcium signal in outer retinal layers exposed to 40mM K+ is reduced by 90% compared to wild-type (J:102753)
• no visual evoked potential are detected (J:102753)

nervous system
• labeling for Grm6 (post-synaptic marker) and Bsn (pre-synaptic marker) is reduced in the outer plexiform layer and Bsn or co-localization of both markers is sometimes seen in the outer nuclear layer (J:102753)
• rod synaptic terminals are abnormal lacking bipolar and horizontal cell invaginations into the synaptic terminal and almost all synaptic ribbons are absent (J:102753)
• calbindin labeling of horizontal cells is reduced in the outer plexiform layer and horizontal cell processes extend into the outer nuclear layer (J:102753)
• rod bipolar cell bodies appear flattened and rougher compared to wild-type (J:102753)

Mouse Models of Human Disease
OMIM IDRef(s)
Night Blindness, Congenital Stationary, Type 2A; CSNB2A 300071 J:102753