Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mnx1tm4(cre)Tmj mutation
(2 available);
any
Mnx1 mutation
(28 available)
Psmf1tm1c(EUCOMM)Hmgu mutation
(0 available);
any
Psmf1 mutation
(11 available)
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growth/size/body
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• 5-month-old mice show a reduction in body weight
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behavior/neurological
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• mice develop motor defects by 5 months of age that become progressively more severe with age
• overt motoric defects recapitulate phenotypes for amyotrophic lateral sclerosis (ALS 3A)
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nervous system
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• swelling of axonal tips in motor neurons is apparent as early as 1 month after birth and becomes progressively more severe with age
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• mice show severe structural abnormalities of the neuromuscular junction (NMJ), including presynaptic fragmentation of the NMJ, axonal tip swellings, and massive axonal sprouting that are notable at 5 months of age
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muscle
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• mice develop muscle atrophy by 5 months of age that becomes progressively more severe with age
• 5-month-old mice show highly atrophied thoracic musculature
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skeleton
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• mice develop kyphosis of the spine by 5 months of age that becomes progressively more severe with age
• severe kyphosis is due to atrophy and weakness of paraspinal muscles
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Psmf1tm1c(EUCOMM)Hmgu mutation
(0 available);
any
Psmf1 mutation
(11 available)
Tg(Pcp2-cre)GN135Gsat mutation
(2 available)
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behavior/neurological
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• by P60, mice have severely disrupted balance, frequently drag their bodies along the ledge and fall on their heads when lowering themselves into the cage
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• older mice exhibit locomotor defects
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• mice exhibit an aberrant halting gait and frequently lose their balance by P30 (but not a P21) in the ledge test and gait analysis
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hematopoietic system
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• reactive microglia become detectable in the deep cerebellar nuclei at P22 and gliosis becomes more severe at P30
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immune system
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• reactive microglia become detectable in the deep cerebellar nuclei at P22 and gliosis becomes more severe at P30
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nervous system
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• reactive microglia become detectable in the deep cerebellar nuclei at P22 and gliosis becomes more severe at P30
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• a major reduction in Purkinje cell number is seen at 10 months of age
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• by P30, Purkinje cell primary and secondary dendrites appear swollen
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• by P60, the deep cerebellar nuclei contains large aggregates throughout which are positive for both poly-Ub conjugates and p62
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• by P30, a dramatic increase in reactive astrocytes is seen in the DCN, but not the Purkinje or molecular layers
• by P50, some reactive astrocytes are seen in the Purkinje layer
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• swellings along the length of the axons in the white matter
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• Purkinje cell axon terminals in the deep cerebellar nuclei have swellings
• Purkinje cells lose almost all of their axon terminals in the deep cerebellar nuclei by 10 months of age
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• axonal torpedoes, focal swellings on Purkinje cell axons are seen by 10 months of age
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• progressive damage to Purkinje cell axon terminals
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Psmf1tm1c(EUCOMM)Hmgu mutation
(0 available);
any
Psmf1 mutation
(11 available)
Tg(CDX2-cre)101Erf mutation
(1 available)
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mortality/aging
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• all mice die by 3 to 4 weeks of age
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behavior/neurological
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• mice begin to develop progressive neuromotor phenotypes around P6, characterized by spasticity, rigid muscle tone, strong tremor, and severely impaired righting response
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• severely impaired righting response
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• mice exhibit hindlimb clasping between episodes of tremor when picked up by tails
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• mice are only able to move using their front legs since their hind limbs are hyperextended and paralyzed
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muscle
Analysis Tools