Phenotypes Associated with This Genotype

Genotype
MGI:5632120

• Allelic Composition: Cacna2d2^du-2J/Cacna2d2^du-2J
• Genetic Background: involves: C57BL/6 * C57BLKS/J

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

behavior/neurological

ataxia ( J:213548 )

absence seizures ( J:213548 )

• mice exhibit an increase in spike firing irregularity within the Purkinje cell layer of the cerebellum, however Purkinje cell layer spike firing frequency and spike amplitude are unaffected

• within the granule cell layer, mice exhibit more irregular firing indicating changes in spontaneous network firing properties

nervous system

absence seizures ( J:213548 )

• mice exhibit an increase in spike firing irregularity within the Purkinje cell layer of the cerebellum, however Purkinje cell layer spike firing frequency and spike amplitude are unaffected

• within the granule cell layer, mice exhibit more irregular firing indicating changes in spontaneous network firing properties

abnormal CNS synaptic transmission ( J:213548 )

• WIN55 (a cannabinoid receptor 1 agonist) and AM251 (a cannabinoid receptor 1 antagonist) fail to affect Purkinje cell layer spike firing frequency, spike amplitude or regularity of firing and fail to modulate sIPSC frequency or amplitude at interneuron-Purkinje cell synapses as seen in wild-type mice, indicating that mice lack the strong presynaptic modulation of neuronal firing by cannabinoid CB1 receptors that is seen in wild-type mice

abnormal miniature inhibitory postsynaptic currents ( J:213548 )

• mice exhibit increased sIPSC amplitudes at interneuron-Purkinje cell synapses, however, no differences in sIPSC frequency or regularity are seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
epilepsy		DOID:1826		J:213548