Phenotypes Associated with This Genotype

Genotype
MGI:5634270

• Allelic Composition: Cacna1f^tm1.1Sdie/Y
• 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