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Phenotypes Associated with This Genotype
Genotype
MGI:5467734
Allelic
Composition
Cacna1atm2.1Kewa/Cacna1atm2.1Kewa
Genetic
Background
B6.Cg-Cacna1atm2.1Kewa
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacna1atm2.1Kewa mutation (0 available); any Cacna1a mutation (69 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• impaired performance on the rotarod at 6 weeks of age
• develop an ataxic gait at 6 weeks of age
• gait progressively deteriorates with age
• wobbling and short stepped gait at 15 weeks of age
• at 15 weeks of age

nervous system
• cell bodies appear smaller at 6 weeks of age
• 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 may structurally abnormal mitochondria
• steep decline in cell numbers after 6 weeks of age
• decrease in dendritic arborization and numerous axonal swellings are seen
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/11/2017
MGI 6.10
The Jackson Laboratory