Analysis Tools
mortality/aging
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• mice die after a few weeks to a few months of age
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behavior/neurological
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• poor hindlimb motor control
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limb grasping
(
J:87349
)
|
• when lifted by its tail, a mutant mouse keeps its hind limbs close to its body
|
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• homozygous mutant mice exhibit intense body tremor both during movement and when at rest
|
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• the hind limbs of homozygous mice often move together
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paraparesis
(
J:87349
)
|
• mutants' hind limbs appear weak, remaining low during locomotion
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muscle
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• at P20, mice exhibit increased type 1 slow muscle fibers in the gastrocnemius compared with wild-type mice
|
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• Background Sensitivity: more severe on a C57BL/6J or DBA background than on other backgrounds
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muscle spasm
(
J:87349
)
|
• homozygous mutants experience brief spasms of the front and/or hind limbs
|
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• cross sections of axial muscle from 3 mutant mice ages 27 - 34 days revealed neurogenic myopathy; atrophied, denervated muscle fibers and small, regenerating fibers exist among normal-appearing muscle fibers
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nervous system
| N |
• mice exhibit normal axon numbers and size
|
|
• mice exhibit abnormal neuromuscular junctions (NMJs) morphology with smaller, simpler postsynaptic sites than in wild-type mice
• diaphragm NMJs are abnormal at birth, severly affected at P4, and virtually completely degraded by P14 compared to in wild-type mice
• NMJ defects arise by P13 in the triangularis sterni with pre- and postsynaptic degradation at P18
• tibialis anterior NMJs are disaggregated by P14 compared to in wild-type mice
• NMJ postnatal degradation varies in different muscles
• however, mice do not exhibit die-back neuropathy
|
growth/size/body
limbs/digits/tail
camptodactyly
(
J:87349
)
|
• homozygotes' toes, particularly those of the hind paws, may not extend fully
|
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• hindlimb atrophy
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| congenital myasthenic syndrome 8 | DOID:0110657 |
OMIM:615120 |
J:176117 | |
