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Phenotypes Associated with This Genotype
Genotype
MGI:3611756
Allelic
Composition
Cacna1ftm1Ntbh/Cacna1ftm1Ntbh
Genetic
Background
B6.129-Cacna1ftm1Ntbh
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacna1ftm1Ntbh mutation (0 available); any Cacna1f mutation (14 available)
phenotype observed in females
phenotype observed in males
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
• rod bipolar cell bodies appear flattened and rougher compared to wild-type
• axon terminals appear irregular and dendritic appendages extend beyond the outer plexiform layer into the outer nuclear layer
• the outer plexiform layer is thinner
• under scotopic conditions electroretinograms for mutant mice show poor and inconsistent responses with no detectable b-wave or oscillatory potentials
• under photopic conditions no reliable response is seen in mutant electroretinograms
• peak calcium signal in outer retinal layers exposed to 40mM K+ is reduced by 90% compared to wild-type
• no visual evoked potential are detected

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
• rod synaptic terminals are abnormal lacking bipolar and horizontal cell invaginations into the synaptic terminal and almost all synaptic ribbons are absent
• calbindin labeling of horizontal cells is reduced in the outer plexiform layer and horizontal cell processes extend into the outer nuclear layer
• rod bipolar cell bodies appear flattened and rougher compared to wild-type

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/13/2016
MGI 6.05
The Jackson Laboratory