Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nrcamm1J mutation
(0 available);
any
Nrcam mutation
(87 available)
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behavior/neurological
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• poor performance on a rotarod test
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cardiovascular system
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• conduction block that is intermediate between wildtype and that found in mice additionally homozygous for a Sh3tc2 null allele
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nervous system
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• no overt neuromuscular phenotype detected, and no changes in axon diameter, myelin thickness, or axon number
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• split nodes with two distinct bands of NaV1.6 and AnkyrinG are found in 6.6% (+/-2.8%) of nodes assessed in sciatic nerve
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• myelin is more tightly wrapped than normal as assessed on femoral motor nerves
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• slightly decreased in adult homozygotes
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nrcamm1J mutation
(0 available);
any
Nrcam mutation
(87 available)
Sh3tc2m1J mutation
(1 available);
any
Sh3tc2 mutation
(61 available)
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behavior/neurological
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• progressive paralysis and muscle wasting, leading to death by 5 months of age, but in mice homozygous for one allele and heterozygous for the other this phenotype is not observed
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cardiovascular system
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• conduction block with the proximal integrated compound muscle action potential reduced by 35% relative to that of the distal
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nervous system
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• although single mutants have normal neuromuscular junctions, double homozygotes have extensive fragmentation, sprouting of nerve terminals, and extrasynaptic acetylcholine receptor expression in the neuromuscular junctions of the plantaris muscle at 3.5 months of age, but not at 2.5 months of age
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• double homozygotes have reduced action potential propagation with distance and when synaptic transmission at the neuromuscular junction was assessed by two-electrode voltage clamp, five of 10 fibers assessed failed to produce an evoked response despite the presence of spontaneous mini excitatory postsynaptic currents.
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• the adult compound homozygote has less than half normal sciatic nerve conduction velocity, a more severe diminution than that of either single homozygote, although the myelin thickness is comparable to that of Sh3tc2 null mutants
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mortality/aging
muscle
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gars1C201R mutation
(2 available);
any
Gars1 mutation
(42 available)
Nrcamm1J mutation
(0 available);
any
Nrcam mutation
(87 available)
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behavior/neurological
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• poor motor performance compared with controls, but no progression to paralysis
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muscle
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• muscles in mice with this compound genotype are smaller than that of either parental mutant alone
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nervous system
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• decreased neuromuscular junction occupancy with an increase in partial innervation as well as some denervation
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• reduced axon size in the motor branch of the femoral nerve, similar to that of glycyl-tRNA synthetase mutant mice wildtype for neuronal cell adhesion molecular
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• nerve conductance velocity, assessed in adult sciatic nerve, is reduced further than that in either single parental mutant
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Analysis Tools