Analysis Tools
vision/eye
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• at P16, alpha and beta waves are reduced and latency times are increased compared to in wild-type mice
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Allele Symbol Allele Name Allele ID |
Scn8amed motor end plate disease MGI:1856078 |
| Summary |
4 genotypes |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at P16, alpha and beta waves are reduced and latency times are increased compared to in wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice die within 2 weeks of onset of weakness
(J:5153)
• most mice die by day 19
(J:28678)
• mice die at about 3 weeks of age
(J:28679)
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• motor nerves show marked terminal sprouting, the sprouts growing beyond the normal confines on the motor end-plates
(J:5153)
• motor end plates become progressively more complex and elongated with fine branching of the nerve fiber within the region of motor terminal
(J:28678)
• mice exhibit defects in neuromuscular transmission
(J:28678)
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• most axons show signs of paranodal demyelination
(J:6888)
• the demyelinated gaps of the nodes of Ranvier in the sciatic nerve are wider than in wild-type mice
(J:7297)
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• intracellular recordings from single muscle fibers show that with longer survival of the animal an increasing proportion of the fibers fail to show end-plate potentials or action potentials in response to nerve stimulation
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• conduction velocity is slower, the refractory period is prolonged and the temperature sensitivity is higher than in wild-type mice
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• intracellular recordings from single muscle fibers show that with longer survival of the animal an increasing proportion of the fibers fail to show end-plate potentials or action potentials in response to nerve stimulation
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• the frequency of miniature endplate potentials is increased compared to in wild-type and is not increased by titanic stimulation
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• mice exhibit progressive atrophy of skeletal muscle that is particularly severe in proximal limb muscles
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• muscles exhibit spontaneous fibrillation in isolated preparations
• muscles give only a weak twitch or fail to contract in response to nerve stimulation
• direct stimulation results in a twitch response that is slower than in wild-type muscles
• however, peripheral nerve conduction is normal
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• at 1 week of age mice are softer and floppier than wild-type mice as if lacking muscle tone
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• mice exhibit progressive weakness of skeletal muscle beginning at 8 to 10 days old
(J:5153)
• beginning at day 9 mice exhibit progressive weakness and wasting of skeletal muscle
(J:28678)
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• mice exhibit progressive hindlimb paralysis
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• mice become shaky as hindlimb function is lost and develop a seal-like movement with head going up and down
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• following exposure to flurothyl, mice exhibit a 25% increase in latency to myoclonic jerk and a 58% increase in latency to generalized tonic-clonic seizure (GTCS) compared to in similarly treated wild-type mice
• following exposure to kainic acid, mice exhibit reduced seizure severity and no GTCS compared to similarly treated wild-type mice
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• mice exhibit spike wave discharge (SWD) accompanied by behavior arrest unlike wild-type mice
• the average incidence of SWD is higher than in Scn8amed heterozygotes but lower than in Scn8a8J heterozygotes
• ethosuximide treatment results in 11-fold fewer and shorter SWD compared to a 3-fold increase in frequencies following saline treatment
• the frequency of SWD during slow-wave sleep and paradoxical SWD are higher during the dark cycle than during the light cycle
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• following exposure to flurothyl, mice exhibit a 25% increase in latency to myoclonic jerk and a 58% increase in latency to generalized tonic-clonic seizure (GTCS) compared to in similarly treated wild-type mice
• following exposure to kainic acid, mice exhibit reduced seizure severity and no GTCS compared to similarly treated wild-type mice
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• mice exhibit spike wave discharge (SWD) accompanied by behavior arrest unlike wild-type mice
• the average incidence of SWD is higher than in Scn8amed heterozygotes but lower than in Scn8a8J heterozygotes
• ethosuximide treatment results in 11-fold fewer and shorter SWD compared to a 3-fold increase in frequencies following saline treatment
• the frequency of SWD during slow-wave sleep and paradoxical SWD are higher during the dark cycle than during the light cycle
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice do not survive beyond weaning
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• beginning at 2 weeks of age although a few days later than in Scn8admu homozygotes
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• similar to Scn8amed homozygotes, mice are prone to positioning themselves on their side and wriggling
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• at 2 weeks of age mice exhibit a progressive loss of mobility in their hindlimbs
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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 04/30/2024 MGI 6.23 |
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