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Phenotypes Associated with This Genotype
Genotype
MGI:6400523
Allelic
Composition
Cacna1gem1Ftan/Cacna1gem1Ftan
Genetic
Background
C57BL/6NCrSlc-Cacna1gem1Ftan
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacna1gem1Ftan mutation (0 available); any Cacna1g mutation (60 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice develop ataxia from 11-20 weeks of age
• mice fall off the rotarod with reduced latencies at older ages
• however, grip strength in the wire hang test is normal
• maximum width of the mass midpoints of bilateral hindpaw prints is greater than in wild-type mice at 50 weeks of age

nervous system
• neurodegeneration of cerebellar cortex
• the molecular layer is decreased in 50-week-old mice
• 50-week-old mice show an increase in reactive astrocytes
• progressive cerebellar degeneration and neurodegeneration of cerebellar cortex
• 50-week-old mice show degeneration of Purkinje cells, with reduced Purkinje cell density
• rebound excitation following hyperpolarizing current injection triggers fewer spikes in Purkinje cells of presymptomatic juvenile mice indicating that rebound firing is reduced and that Purkinje cell excitability immediately after hyperpolarization is dampened
• resonance of membrane potential of neurons in the inferior olivary nucleus is decreased
• mice show altered voltage dependence of T-type calcium currents in cerebellar Purkinje cells
• however, synaptic transmission onto Purkinje cells is not impaired, with mice showing normal LTD, climbing fiber-mediated excitatory postsynaptic currents (EPSCs), parallel fiber-mediated EPSCs, and spontaneous inhibitory postsynaptic currents

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
cerebellar ataxia type 42 DOID:0111742 OMIM:616795
J:278129


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/23/2021
MGI 6.16
The Jackson Laboratory