Analysis Tools
mortality/aging
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• more mice survive to adulthood and exhibit normal lethality when Tg(SMN2)11Tro is inherited paternally and Tg(SMN2)46Tro maternally than the reverse
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• average survival is 15 days when Tg(SMN2)11Tro is inherited maternally and Tg(SMN2)46Tro paternally
• median survival is 14 days when Tg(SMN2)11Tro is inherited maternally and Tg(SMN2)46Tro paternally
• median survival is 22 days when Tg(SMN2)11Tro is inherited paternally and Tg(SMN2)46Tro maternally
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nervous system
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• at P15, mice exhibit a decrease in motor neurons in the lumbar vertebrae compared to in wild-type mice
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• synpatic boutons exhibit neurofilament accumulation, are thick and swollen, and contain axonal disorganization compared to in wild-type mice
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• at P15, neuromuscular synapses are disorganized with loss of endplate architecture compared to in wild-type mice
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• at P15, mice exhibit a non-statistically significant axon loss in the phrenic nerves unlike wild-type mice
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• at P15, mice exhibit a reduction in the number of myelinated axons of the ventral roots of the sciatic nerve compared with wild-type mice
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• at P15, mice exhibit a reduction in the number of myelinated axons of the ventral roots of the sciatic nerve compared with wild-type mice
• at P15, mice exhibit a non-statistically significant axon loss in the phrenic nerves unlike wild-type mice
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muscle
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• muscle fiber diameter in the gastrocnemius is reduced compared to in wild-type mice
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• at P15, mice exhibit reduced compound muscle action potential (CMAP) amplitude and extend CMAP latency and duration compared with wild-type mice
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• at P9 and worsening over the following week
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respiratory system
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• from P1 to P7, maturation of breathing variables is impaired compared with wild-type mice
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• at P7, breath duration is increased compared to in wild-type mice
• however, breath duration at P1 is normal
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• at P7 but not P1, mice exhibit decreased pulmonary ventilation compared with wild-type mice
• however, mice exhibit a normal increase in ventilation in response to hypoxia
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behavior/neurological
| N |
• mice exhibit normal righting response
• mice exhibit normal response to hypoxia including normal increase in ventilation, ultrasonic vocalization, and motor responses
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• at P14
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• mice exhibit reduced performance in a negative geotaxis test compared with wild-type mice
• up to P12, mice fail to reorient themselves gravitationally head upwards within 60 seconds or exhibit increased latency compared with wild-type mice
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limbs/digits/tail
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• in mice that survive to adulthood
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• in mice that survive to adulthood
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growth/size/body
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• in mice that survive to adulthood
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• after P4
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hearing/vestibular/ear
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• in mice that survive to adulthood
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homeostasis/metabolism
| N |
• mice exhibit normal response to hypoxia including normal increase in ventilation, ultrasonic vocalization, and motor responses
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craniofacial
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• in mice that survive to adulthood
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Werdnig-Hoffmann disease | DOID:13137 |
OMIM:253300 |
J:159930 | |
