Phenotypes Associated with This Genotype

Genotype
MGI:5550384

• Allelic Composition: Cacna1f^tm1.1Sdie/Cacna1f⁺
• Genetic Background: involves: C57BL/6

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

vision/eye

abnormal retina morphology ( J:206214 )

♀ • 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

abnormal retina bipolar cell morphology ( J:206214 )

♀ • irregular outgrowth of bipolar cell dendrites into the outer nuclear layer

abnormal retina horizontal cell morphology ( J:206214 )

♀ • irregular outgrowth of horizontal cell neurites into the outer nuclear layer

retina cone cell degeneration ( J:206214 )

♀

abnormal retina outer nuclear layer morphology ( J:206214 )

♀ • outgrowths of horizontal cell neurites and bipolar cell dendrites into the outer nuclear layer

thin retina outer plexiform layer ( J:206214 )

♀

retina gliosis ( J:206214 )

♀ • reactive gliosis in the affected retinal columns

abnormal eye physiology ( J:206214 )

♀ • defect in transmission of visual signals from rod and cone photoreceptors to bipolar cells

decreased b-wave amplitude ( J:206214 )

♀ • 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

abnormal vision ( J:206214 )

♀ • 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

abnormal retina bipolar cell morphology ( J:206214 )

♀ • irregular outgrowth of bipolar cell dendrites into the outer nuclear layer

abnormal retina horizontal cell morphology ( J:206214 )

♀ • irregular outgrowth of horizontal cell neurites into the outer nuclear layer

retina cone cell degeneration ( J:206214 )

♀

abnormal synapse morphology ( J:206214 )

♀ • 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