Phenotypes Associated with This Genotype

Genotype
MGI:6400523

• Allelic Composition: Cacna1g^em1Ftan/Cacna1g^em1Ftan
• Genetic Background: C57BL/6NCrSlc-Cacna1g^em1Ftan

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

behavior/neurological

ataxia ( J:278129 )

• mice develop ataxia from 11-20 weeks of age

impaired coordination ( J:278129 )

• mice fall off the rotarod with reduced latencies at older ages

• however, grip strength in the wire hang test is normal

abnormal gait ( J:278129 )

• maximum width of the mass midpoints of bilateral hindpaw prints is greater than in wild-type mice at 50 weeks of age

nervous system

abnormal cerebellar cortex morphology ( J:278129 )

• neurodegeneration of cerebellar cortex

thin cerebellar molecular layer ( J:278129 )

• the molecular layer is decreased in 50-week-old mice

astrocytosis ( J:278129 )

• 50-week-old mice show an increase in reactive astrocytes

neurodegeneration ( J:278129 )

• progressive cerebellar degeneration and neurodegeneration of cerebellar cortex

Purkinje cell degeneration ( J:278129 )

• 50-week-old mice show degeneration of Purkinje cells, with reduced Purkinje cell density

abnormal afterhyperpolarization ( J:278129 )

• 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

abnormal neuron physiology ( J:278129 )

• resonance of membrane potential of neurons in the inferior olivary nucleus is decreased

abnormal channel response ( J:278129 )

• 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