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Phenotypes Associated with This Genotype
Genotype
MGI:3037958
Allelic
Composition
Cacna1atm1Maag/Cacna1atm1Maag
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacna1atm1Maag mutation (0 available); any Cacna1a mutation (40 available)
phenotype observed in females
phenotype observed in males
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
DO ID OMIM ID(s) Ref(s)
familial hemiplegic migraine DOID:0060178 J:88693


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
09/17/2019
MGI 6.14
The Jackson Laboratory