Phenotypes associated with this allele

• Allele Symbol: Cacna2d2^du-2J
• Allele Name: ducky 2 Jackson
• Allele ID: MGI:2149331
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cacna2d2^du-2J/Cacna2d2^du-2J	involves: C57BL/6 * C57BLKS/J	MGI:5632120
hm2	Cacna2d2^du-2J/Cacna2d2^du-2J	involves: C57BLKS/J-Cacna2d2^du-2J/LetJ	MGI:3797575
ht3	Cacna2d2^du-2J/Cacna2d2^+	involves: C57BL/6 * C57BLKS/J	MGI:5632121

Genotype
MGI:5632120

hm1

• 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

Genotype
MGI:3797575

hm2

• Allelic Composition: Cacna2d2^du-2J/Cacna2d2^du-2J
• Genetic Background: involves: C57BLKS/J-Cacna2d2^du-2J/LetJ

nervous system

nervous system phenotype ( J:70845 )

N • at 21 days of age there is no loss of cell bodies in the Purkinje cell layer or granule layer

absence seizures ( J:70845 )

• accompany the spike-wave discharges

abnormal spike wave discharge ( J:70845 )

abnormal cerebellum morphology ( J:116185 )

• at P15, the cerebella is smaller than in wild-type mice

abnormal Purkinje cell morphology ( J:116185 )

• the somatic calcium current within Purkinje cells is reduced 30%

• Purkinje cells are smaller and more densely packed than in wild-type mice

• however, arborization is normal

decreased Purkinje cell size ( J:116185 )

abnormal axon morphology ( J:116185 )

• mice exhibit axonal swelling

• however, there is no evidence of microglial activation

abnormal nervous system electrophysiology ( J:116185 )

• at P17 to P25, tonically firing Purkinje cells fire at a lower rate than in wild-type cells and do not depend on GABA or glutamate release

• the minimum amount of depolarization current required to induce firing is increased compared to in wild-type Purkinje cells

• at 22^oC spontaneous Purkinje cell firing is decreased and irregular

• at 34^oC Purkinje cells exhibit no spontaneous firing

abnormal brain wave pattern ( J:70845 )

• mice exhibit spike-wave discharge on cortical electroencephalogram

behavior/neurological

abnormal involuntary movement ( J:70845 )

• dyskinesia

ataxia ( J:70845 )

absence seizures ( J:70845 )

• accompany the spike-wave discharges

abnormal spike wave discharge ( J:70845 )

Genotype
MGI:5632121

ht3

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

nervous system

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 at interneuron-Purkinje cell synapses indicating that mice lack the strong presynaptic modulation of neuronal firing by cannabinoid CB1 receptors that is seen in wild-type mice