Phenotypes Associated with This Genotype

Genotype
MGI:5634279

• Allelic Composition: Cacna1f^tm1.2Sdie/Y
• Genetic Background: B6.Cg-Cacna1f^tm1.2Sdie/J

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

vision/eye

retina photoreceptor degeneration ( J:212726 )

♂ • progressive photoreceptor loss, with degeneration more severe than in the Cancna1f^tm1.1Sdie mutants and preferentially of rod photoreceptors and with milder loss of cone photoreceptors

retina rod cell degeneration ( J:212726 )

♂

thin retina outer nuclear layer ( J:212726 )

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

♂ • residual ONL thickness of only 1/3 of the wild-type retina at 8 months of age

abnormal eye physiology ( J:212726 )

♂ • Cav1.4 channels display altered gating properties in the photoreceptor terminals

♂ • voltage-dependent calcium flux is retained but is abnormal in photoreceptor synaptic terminals

increased retina apoptosis ( J:212726 )

♂ • retina shows an increased rate of apoptosis at 1, 2, and 8 months of age, with a 4- to 5-five fold and 70-fold increase in apoptotic photoreceptors at P28 and 2 months, and at 8 months, respectively

abnormal electroretinogram waveform feature ( J:212726 )

♂ • at photopic conditions, only a small deflection in flash ERGs is measured at 1 month of age

decreased a-wave amplitude ( J:212726 )

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

decreased b-wave amplitude ( J:212726 )

♂ • amplitude of the residual scoptic b-wave is smaller at 2 and 8 months of age, and shows a small and steady age-dependent decline

♂ • photopic b-wave responses are almost absent

nervous system

retina photoreceptor degeneration ( J:212726 )

♂ • progressive photoreceptor loss, with degeneration more severe than in the Cancna1f^tm1.1Sdie mutants and preferentially of rod photoreceptors and with milder loss of cone photoreceptors

retina rod cell degeneration ( J:212726 )

♂

abnormal synapse morphology ( J:212726 )

♂ • cone photoreceptor terminals show free-floating ribbons at 2 and 8 months of age

♂ • however, mice show some intact rod ribbon synapses

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

increased retina apoptosis ( J:212726 )

♂ • retina shows an increased rate of apoptosis at 1, 2, and 8 months of age, with a 4- to 5-five fold and 70-fold increase in apoptotic photoreceptors at P28 and 2 months, and at 8 months, respectively

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