Phenotypes Associated with This Genotype

Genotype
MGI:3700746

• Allelic Composition: Cacna1a^tg/Cacna1a^tg
• Genetic Background: involves: C57BL/6J * DBA/2J

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

nervous system

abnormal nervous system physiology ( J:221681 )

• anesthetized mice exhibit episodic, low-frequency oscillations throughout the cerebral cortex ranging between 0.035 and 0.11 Hz, which can spontaneously develop very high power

• the high power state is associated with increased cortical neuron firing variability

• treatment with tetrodotoxin, a voltage-gated sodium channel blocker, decreases the low-frequency oscillations

• blocking L-type calcium channels with diltiazem reduces the high-state of the low-frequency oscillations

• blocking nitric oxide signaling with L-NAME results in an increase in high-power low-frequency oscillations in the cerebral cortex

• treatment with acetazolamide or 4-aminopyridine decreases the high-power low-frequency oscillations

abnormal somatosensory cortex physiology ( J:221681 )

• mice exhibit a reduced response of activity in the contralateral barrel cortex to air puffs delivered to the c2 whisker, indicating a deficit in processing of sensory inputs into the somatosensory cortex

abnormal synaptic transmission ( J:221681 )

• the ipsilateral and contralateral responses to intracortical stimulation are lower in mutants than in wild-type mice

• blocking ionotropic (with DNQX and APV) or metabotropic glutamate receptors (with LY36738 and MPEP) results in high-power low-frequency oscillations in mutants but not wild-type mice, indicating that the low-frequency oscillations in the cerebral cortex are facilitated by a reduction in excitatory synaptic transmission

abnormal CNS synaptic transmission ( J:106959 )

• peak current densities of low voltage-activated (LVA) calcium channels in thalamocortical (TC) neurons at membrane potential of -50 mV are increased by 46% compared to control

• peak current densities of high voltage calcium channels (HVA) in TC neurons are increased compared to wild-type

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
episodic ataxia type 2		DOID:0050990	OMIM:108500	J:221681