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Phenotypes Associated with This Genotype
Genotype
MGI:5550384
Allelic
Composition
Cacna1ftm1.1Sdie/Cacna1f+
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacna1ftm1.1Sdie mutation (1 available); any Cacna1f mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• retina is mosaic due to differential X-chromosomal inactivation of Cacna1f resulting in vertical columns of affected and nonaffected retinal tissue
• retinal network columns with compromised morphology are radially oriented and display outgrowths of horizontal cell neurites and bipolar cell dendrites into the outer nuclear layer and thinning of the outer plexiform layer
• irregular outgrowth of bipolar cell dendrites into the outer nuclear layer
• irregular outgrowth of horizontal cell neurites into the outer nuclear layer
• outgrowths of horizontal cell neurites and bipolar cell dendrites into the outer nuclear layer
• reactive gliosis in the affected retinal columns
• defect in transmission of visual signals from rod and cone photoreceptors to bipolar cells
• scotopic ERGs are characterized by reduced b-wave amplitudes and oscillatory potentials
• photopic ERGs are characterized by reduced b-wave amplitude
• however, the threshold of the b-wave, and the amplitude and threshold of the a-wave are normal for scotopic ERGs
• in the vision-guided water-maze task, heterozygous females have an increased latency to navigate to a visible platform under dark conditions compared to wild-type mice but less so than in homozygotes
• under normal light conditions, heterozygotes have only slightly increased latencies and do not make any error of omissions

nervous system
• irregular outgrowth of bipolar cell dendrites into the outer nuclear layer
• irregular outgrowth of horizontal cell neurites into the outer nuclear layer
• patchy pattern of changes in photoreceptor synaptic morphology
• loss of cone pedicles

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
congenital stationary night blindness 2A DOID:0110871 OMIM:300071
J:206214


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
03/12/2024
MGI 6.23
The Jackson Laboratory