Phenotypes Associated with This Genotype

Genotype
MGI:5792057

• Allelic Composition: Cacna1a^tg/Cacna1a^tm2.1Maag
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J * FVB/N

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

behavior/neurological

dystonia ( J:233263 )

• mice injected with a lentivirus expressing cre recombinase into the midline or lateral cerebellum (to affect only 10-15% of the cerebellum) exhibit abnormal dystonic movements, with most isolated to a single body part, such as the hindlimb

• 90% of abnormal movements are tonic flexion or extension of the hindlimb, 8% are clonic movements of the head/neck and 2% are tonic flexion or extension of the trunk

muscle

dystonia ( J:233263 )

• mice injected with a lentivirus expressing cre recombinase into the midline or lateral cerebellum (to affect only 10-15% of the cerebellum) exhibit abnormal dystonic movements, with most isolated to a single body part, such as the hindlimb

• 90% of abnormal movements are tonic flexion or extension of the hindlimb, 8% are clonic movements of the head/neck and 2% are tonic flexion or extension of the trunk

abnormal muscle electrophysiology ( J:233263 )

• mice injected with a lentivirus expressing cre recombinase into the cerebellum exhibit an increase in electromyography amplitude of tibialis and gastrocnemius muscles

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
generalized dystonia		DOID:0050835		J:233263