Phenotypes Associated with This Genotype

Genotype
MGI:3037958

• Allelic Composition: Cacna1a^tm1Maag/Cacna1a^tm1Maag
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

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

nervous system

abnormal CNS synaptic transmission ( J:88693 )

• a decrease in the threshold for induction and an increase in propagation velocity of cortical spreading depression (a wave of transient intense spike activity followed by long-lasting neuronal suppression that crosses the cortex)

• mutants are viable, fertile, and display no overt phenotype unlike Cacna1a null mutants

abnormal PNS synaptic transmission ( J:88693 )

• increased neurotransmission at the neuromuscular junction under specific conditions

abnormal miniature endplate potential ( J:88693 )

• miniature endplate potential (spontaneous postsynaptic depolarization resulting from uniquantal acetylcholine release) frequency is increased

abnormal channel response ( J:88693 )

• mutant Ca_v2.1 channels activate at lower voltages and open more readily than wild-type channels

• the density of functional Ca_v2.1 channels in mutants is unaffected

• other Ca²⁺ channels are unaffected

abnormal synaptic acetylcholine release ( J:88693 )

• at the neuromuscular junction acetylcholine release when the concentration of Ca²⁺ is below saturation concentrations is significantly increased

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
familial hemiplegic migraine		DOID:0060178		J:88693