Analysis Tools
mortality/aging
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• homozygotes are found at non-Mendelian ratios at weaning, but not at embryonic stages, indicating some perinatal death
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vision/eye
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• analysis of the pupillary response to dark or to the mydriatic agent tropicamide, shows permanently constricted pupils
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• atonic pupils
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miotic pupil
(
J:211808
)
|
• mice exhibit dense nuclear cataracts at the time of eye opening (P12)
• at P1.5, large vacuoles, pyknotic nuclei and nuclear aggregates are seen in the eye characteristic of cataract development
• however, retinal degeneration is not seen
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• at E12.5, the posterior epithelial cells have not reached the lens anterior, indicating a delay in eye development
• by E15.5, the lens vesicle closes, but vacuoles form at the periphery
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behavior/neurological
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• analysis of the pupillary response to dark or to the mydriatic agent tropicamide, shows permanently constricted pupils
|
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• from 3 weeks of age, mice exhibit hind limb grasping when lifted by the tail
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• progressive hindlimb weakness
• however, atrophy of skeletal muscle is not seen and motor endplate morphology is normal
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nervous system
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• mice have disorganized cytoskeletons in peripheral nerves, with disorganization of microtubule and neurofilament networks
• however, postsynaptic motor endplates are normal and normally innervate all the muscle types examined
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• majority of motor nerve terminals of distal motor axons are abnormal, with accumulation of microtubules and neurofilaments at the neuromuscular junction
• mice however, show normal synaptic vesicle recycling at peripheral synapses and in the central nervous system
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• sciatic nerves show gross disorganization of the cytoskeleton with randomly oriented filaments
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adipose tissue
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• enlargement of lipid droplets in mouse embryonic fibroblasts following oleic acid treatment
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cellular
|
• mice have disorganized cytoskeletons in peripheral nerves, with disorganization of microtubule and neurofilament networks
• sciatic nerves show gross disorganization of the cytoskeleton with randomly oriented filaments
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Warburg micro syndrome 3 | DOID:0110718 |
OMIM:614222 |
J:211808 | |
