Phenotypes associated with this allele

• Allele Symbol: Cacna1f^tm1.1Sdie
• Allele Name: targeted mutation 1.1, Susanne tom Dieck
• Allele ID: MGI:3838717
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cacna1f^tm1.1Sdie/Cacna1f^tm1.1Sdie	B6.Cg-Cacna1f^tm1.1Sdie/J	MGI:5634271
hm2	Cacna1f^tm1.1Sdie/Cacna1f^tm1.1Sdie	involves: C57BL/6	MGI:3838721
ht3	Cacna1f^tm1.1Sdie/Cacna1f^+	involves: C57BL/6	MGI:5550384
ot4	Cacna1f^tm1.1Sdie/Y	B6.Cg-Cacna1f^tm1.1Sdie/J	MGI:5634270
ot5	Cacna1f^tm1.1Sdie/Y	involves: C57BL/6	MGI:5550383

Genotype
MGI:5634271

hm1

• Allelic Composition: Cacna1f^tm1.1Sdie/Cacna1f^tm1.1Sdie
• Genetic Background: B6.Cg-Cacna1f^tm1.1Sdie/J

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

vision/eye

retina photoreceptor degeneration ( J:212726 )

♀ • progressive photoreceptor loss, with rod and cone photoreceptors affected to a similar degree

thin retina outer nuclear layer ( J:212726 )

♀ • moderate reduction in outer nuclear layer (ONL) thickness at 2 and 8 months of age

retina outer nuclear layer degeneration ( J:212726 )

♀ • increase in the percentage of apoptotic cells in the ONL at P28, however at 2 and 8 months of age, the percentage of apoptotic cells in the retina decreases to wild-type levels, indicating an initial peak of photoreceptor degeneration followed by a steady but moderate degeneration from two months onward

abnormal eye physiology ( J:212726 )

♀ • calcium responses to depolarization of photoreceptor terminals are undetectable

abnormal retina apoptosis ( J:212726 )

♀ • increase in the percentage of apoptotic cells in the ONL at P28, however at 2 and 8 months of age, the percentage of apoptotic cells in the retina decreases to wild-type levels

abnormal electroretinogram waveform feature ( J:212726 )

♀ • at photopic conditions, flash ERGs are not recordable in mutants

abnormal a-wave shape ( J:212726 )

♀ • at scotopic conditions, ERGs display a residual a-wave

decreased a-wave amplitude ( J:212726 )

♀ • at scotopic conditions, a-wave amplitude is smaller at 2 and 8 months of age

abnormal b-wave shape ( J:212726 )

♀ • b-wave in the EEG is absent

nervous system

retina photoreceptor degeneration ( J:212726 )

♀ • progressive photoreceptor loss, with rod and cone photoreceptors affected to a similar degree

abnormal synapse morphology ( J:212726 )

♀ • photoreceptor ribbon synapses are abnormal

♀ • cone photoreceptor terminals are either absent or not identifiable as such

♀ • postsynaptic elements and synaptic ribbons are either absent of spherically shaped and free-floating at 2-8 months of age

♀ • the rarely observed anchored rod photoreceptor ribbons are small and club-shaped

abnormal neuron physiology ( J:212726 )

♀ • mice exhibit enhanced spouting of rod bipolar- and horizontal cell processes into the ONL already at P14 which peaks at P28 and then declines

cellular

abnormal retina apoptosis ( J:212726 )

♀ • increase in the percentage of apoptotic cells in the ONL at P28, however at 2 and 8 months of age, the percentage of apoptotic cells in the retina decreases to wild-type levels

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital stationary night blindness 2A		DOID:0110871	OMIM:300071	J:212726

Genotype
MGI:3838721

hm2

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

vision/eye

abnormal retina bipolar cell morphology ( J:206214 )

♀ • irregular outgrowth of bipolar cell neurites

abnormal retina horizontal cell morphology ( J:206214 )

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

abnormal retina cone cell morphology ( J:206214 )

♀ • cone outer segments appear disorganized

retina cone cell degeneration ( J:206214 )

♀

abnormal retina inner plexiform layer morphology ( J:206214 )

♀ • marker analysis indicates compromised morphology of rod bipolar cell synapses in the inner plexiform layer

abnormal retina outer nuclear layer morphology ( J:206214 )

♀ • rod bipolar cell dendrites extend beyond the outer plexiform layer, far into the outer nuclear layer unlike in wild-type mice where they are restricted to the outer plexiform layer

♀ • horizontal cell neurites extend far into the outer nuclear layer which is not seen in wild-type mice

abnormal retina outer plexiform layer morphology ( J:206214 )

♀ • horizontal cell bodies are reduced in the outer plexiform layer and numerous elongated horizontal cell neurites extend far into the outer nuclear layer

♀ • loss of cone pedicles in the outer plexiform layer

thin retina outer plexiform layer ( J:206214 )

♀

retina gliosis ( J:206214 )

♀ • reactive gliosis in Muller glial cells

abnormal b-wave shape ( J:206214 )

♀ • both in the dark-adapted (scotopic) and light-adapted (photopic) part of the ERG, the b-wave component and oscillatory potentials are completely absent compared to wild-type mice throughout the stimulus range, indicating a defect in neurotransmission from both rod and cone photoreceptors

♀ • however, the amplitude and threshold of the a-wave is similar to wild-type

abnormal vision ( J:206214 )

♀ • in the vision-guided water-maze task, mice have an increased latency to navigate to a visible platform under both dark and normal light conditions

♀ • in about 38% of the trials in the dark and about 27% of trials during light, mutants do not find the platform within the 2 minute test period compared to wild-type mice which all find the platform

♀ • in contrast to wild-type mice, mutants show no improvement in finding the platform during 3 successive test days under dark or on the 4th test day under normal light

♀ • swimming path of mutants in the vision-guided water-maze task is much longer than in wild-type mice

blindness ( J:206214 )

♀ • ERG and behavioral tests indicate that mice are essentially blind

nervous system

abnormal retina bipolar cell morphology ( J:206214 )

♀ • irregular outgrowth of bipolar cell neurites

abnormal retina horizontal cell morphology ( J:206214 )

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

abnormal retina cone cell morphology ( J:206214 )

♀ • cone outer segments appear disorganized

retina cone cell degeneration ( J:206214 )

♀

abnormal synapse morphology ( J:206214 )

♀ • marker analysis indicates disturbed synaptic contacts between photoreceptors and second order neurons and indicates a retraction of photoreceptor synapses from the outer plexiform layer into the outer nuclear layer

♀ • loss of cone pedicles in the outer plexiform layer

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

Genotype
MGI:5550384

ht3

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

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

Genotype
MGI:5634270

ot4

• Allelic Composition: Cacna1f^tm1.1Sdie/Y
• Genetic Background: B6.Cg-Cacna1f^tm1.1Sdie/J

vision/eye

retina photoreceptor degeneration ( J:212726 )

♂ • progressive photoreceptor loss, with rod and cone photoreceptors affected to a similar degree

thin retina outer nuclear layer ( J:212726 )

♂ • moderate reduction in outer nuclear layer (ONL) thickness at 2 and 8 months of age

retina outer nuclear layer degeneration ( J:212726 )

♂ • increase in the percentage of apoptotic cells in the ONL at P28, however at 2 and 8 months of age, the percentage of apoptotic cells in the retina decreases to wild-type levels, indicating an initial peak of photoreceptor degeneration followed by a steady but moderate degeneration from two months onward

abnormal eye physiology ( J:212726 )

♂ • calcium responses to depolarization of photoreceptor terminals are undetectable

abnormal retina apoptosis ( J:212726 )

♂ • increase in the percentage of apoptotic cells in the ONL at P28, however at 2 and 8 months of age, the percentage of apoptotic cells in the retina decreases to wild-type levels

abnormal electroretinogram waveform feature ( J:212726 )

♂ • at photopic conditions, flash ERGs are not recordable in mutants

abnormal a-wave shape ( J:212726 )

♂ • at scotopic conditions, ERGs display a residual a-wave

decreased a-wave amplitude ( J:212726 )

♂ • at scotopic conditions, a-wave amplitude is smaller at 2 and 8 months of age

abnormal b-wave shape ( J:212726 )

♂ • b-wave in the EEG is absent

nervous system

retina photoreceptor degeneration ( J:212726 )

♂ • progressive photoreceptor loss, with rod and cone photoreceptors affected to a similar degree

abnormal synapse morphology ( J:212726 )

♂ • photoreceptor ribbon synapses are abnormal

♂ • cone photoreceptor terminals are either absent or not identifiable as such

♂ • postsynaptic elements and synaptic ribbons are either absent of spherically shaped and free-floating at 2-8 months of age

♂ • the rarely observed anchored rod photoreceptor ribbons are small and club-shaped

abnormal neuron physiology ( J:212726 )

♂ • mice exhibit enhanced spouting of rod bipolar- and horizontal cell processes into the ONL already at P14 which peaks at P28 and then declines

cellular

abnormal retina apoptosis ( J:212726 )

♂ • increase in the percentage of apoptotic cells in the ONL at P28, however at 2 and 8 months of age, the percentage of apoptotic cells in the retina decreases to wild-type levels

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital stationary night blindness 2A		DOID:0110871	OMIM:300071	J:212726

Genotype
MGI:5550383

ot5

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

vision/eye

abnormal retina bipolar cell morphology ( J:206214 )

♂ • irregular outgrowth of bipolar cell neurites

abnormal retina horizontal cell morphology ( J:206214 )

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

abnormal retina cone cell morphology ( J:206214 )

♂ • cone outer segments appear disorganized

retina cone cell degeneration ( J:206214 )

♂

abnormal retina inner plexiform layer morphology ( J:206214 )

♂ • marker analysis indicates compromised morphology of rod bipolar cell synapses in the inner plexiform layer

abnormal retina outer nuclear layer morphology ( J:206214 )

♂ • rod bipolar cell dendrites extend beyond the outer plexiform layer, far into the outer nuclear layer unlike in wild-type mice where they are restricted to the outer plexiform layer

♂ • horizontal cell neurites extend far into the outer nuclear layer which is not seen in wild-type mice

abnormal retina outer plexiform layer morphology ( J:206214 )

♂ • horizontal cell bodies are reduced in the outer plexiform layer and numerous elongated horizontal cell neurites extend far into the outer nuclear layer

♂ • loss of cone pedicles in the outer plexiform layer

thin retina outer plexiform layer ( J:206214 )

♂

retina gliosis ( J:206214 )

♂ • reactive gliosis in Muller glial cells

abnormal b-wave shape ( J:206214 )

♂ • both in the dark-adapted (scotopic) and light-adapted (photopic) part of the ERG, the b-wave component and oscillatory potentials are completely absent compared to wild-type mice throughout the stimulus range, indicating a defect in neurotransmission from both rod and cone photoreceptors

♂ • however, the amplitude and threshold of the a-wave is similar to wild-type

abnormal vision ( J:206214 )

♂ • in the vision-guided water-maze task, mice have an increased latency to navigate to a visible platform under both dark and normal light conditions

♂ • in about 38% of the trials in the dark and about 27% of trials during light, mutants do not find the platform within the 2 minute test period compared to wild-type mice which all find the platform

♂ • in contrast to wild-type mice, mutants show no improvement in finding the platform during 3 successive test days under dark or on the 4th test day under normal light

♂ • swimming path of mutants in the vision-guided water-maze task is much longer than in wild-type mice

blindness ( J:206214 )

♂ • ERG and behavioral tests indicate that mice are essentially blind

nervous system

abnormal retina bipolar cell morphology ( J:206214 )

♂ • irregular outgrowth of bipolar cell neurites

abnormal retina horizontal cell morphology ( J:206214 )

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

abnormal retina cone cell morphology ( J:206214 )

♂ • cone outer segments appear disorganized

retina cone cell degeneration ( J:206214 )

♂

abnormal synapse morphology ( J:206214 )

♂ • loss of cone pedicles in the outer plexiform layer

♂ • marker analysis indicates disturbed synaptic contacts between photoreceptors and second order neurons and indicates a retraction of photoreceptor synapses from the outer plexiform layer into the outer nuclear layer

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