Phenotypes Associated with This Genotype

Genotype
MGI:5467734

• Allelic Composition: Cacna1a^tm2.1Kewa/Cacna1a^tm2.1Kewa
• Genetic Background: B6.Cg-Cacna1a^tm2.1Kewa

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

behavior/neurological

abnormal motor coordination/balance ( J:190729 )

• impaired performance on the rotarod at 6 weeks of age

ataxia ( J:190729 )

• develop an ataxic gait at 6 weeks of age

• gait progressively deteriorates with age

abnormal gait ( J:190729 )

• wobbling and short stepped gait at 15 weeks of age

short stride length ( J:190729 )

• at 15 weeks of age

cellular

abnormal Purkinje cell mitochondrial morphology ( J:190729 )

nervous system

abnormal Purkinje cell morphology ( J:190729 )

• cytoplasmic inclusions are detected in the cerebellum at 7 weeks of age and become more evident with age

• inclusions colocalize with lysosomal markers

• at 15 weeks of age remaining cells have irregularly shaped nuclei and contain many structurally abnormal mitochondria

abnormal Purkinje cell mitochondrial morphology ( J:190729 )

Purkinje cell degeneration ( J:190729 )

• steep decline in cell numbers after 6 weeks of age

abnormal Purkinje cell dendrite morphology ( J:190729 )

• decrease in dendritic arborization and numerous axonal swellings are seen

decreased Purkinje cell size ( J:190729 )

• cell bodies appear smaller at 6 weeks of age

abnormal nervous system electrophysiology ( J:190729 )

• in brain slices containing Purkinje cells injection of a small depolarizing current fails to induce an oscillating behavior in the Na+ spike bursts which is seen in some (4 of 18 slices) wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spinocerebellar ataxia type 6		DOID:0050956	OMIM:183086	J:190729