Phenotypes associated with this allele
craniofacial
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• some animals have necrotic lesions on the teeth
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integument
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• homozygous mice exhibit necrotic lesions on their tails and ears
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growth/size/body
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• some animals have necrotic lesions on the teeth
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skeleton
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• some animals have necrotic lesions on the teeth
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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, mice exhibit apneas unlike 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
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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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• 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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hearing/vestibular/ear
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• in mice that survive to adulthood
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homeostasis/metabolism
craniofacial
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• in mice that survive to adulthood
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mortality/aging
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N |
• mice exhibit a normal lifespan
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limbs/digits/tail
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• mice exhibit swollen hind paws unlike wild-type mice
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• mice exhibit shortening and loss of their tails unlike wild-type mice
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hearing/vestibular/ear
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• mice exhibit degeneration of the external ear tissue unlike in wild-type mice
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growth/size/body
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• mice exhibit degeneration of the external ear tissue unlike in wild-type mice
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craniofacial
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• mice exhibit degeneration of the external ear tissue unlike in wild-type mice
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(SMN2)46Tro mutation
(2 available)
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normal phenotype
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• homozygous mice do not display an abnormal phenotype
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Analysis Tools