Mouse Genome Informatics
hm
    Cacna1atm1Maag/Cacna1atm1Maag
involves: 129P2/OlaHsd * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
nervous system
• 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
• increased neurotransmission at the neuromuscular junction under specific conditions
• miniature endplate potential (spontaneous postsynaptic depolarization resulting from uniquantal acetylcholine release) frequency is increased
• mutant Cav2.1 channels activate at lower voltages and open more readily than wild-type channels
• the density of functional Cav2.1 channels in mutants is unaffected
• other Ca2+ channels are unaffected
• at the neuromuscular junction acetylcholine release when the concentration of Ca2+ is below saturation concentrations is significantly increased

Mouse Models of Human Disease
OMIM IDRef(s)
Migraine, Familial Hemiplegic, 1; FHM1 141500 J:88693