Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitpnavb mutation
(1 available);
any
Pitpna mutation
(37 available)
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mortality/aging
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• mice do not survive past 42 days
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behavior/neurological
nervous system
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• neuron defects include vacuolated or spongiform neurons, swollen neurons undergoing central chromatolysis, and fading neurons with poorly stained cytoplasm and nuclei
• neurons in the inner laminae of the spinal cord are abnormal
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• some neurons are swollen and undergoing central chromatolysis
• nerves in the lateral cerebellar nucleus, lateral vestibular nucleus and the reticular formation undergo chromatolysis
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• neurons with degenerative properties are found in the brain stem, cerebellar roof nuclei, spinal cord and dorsal root ganglia
• nerves in the lateral cerebellar nucleus, lateral vestibular nucleus and the reticular formation undergo chromatolysis and degeneration
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• neurons in the inner laminae are abnormal
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Allelic
Composition |
Pitpnavb/Pitpnavb
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Genetic
Background |
involves: C3HeB/Fe * C57BL/6J * DBA/2J |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitpnavb mutation
(1 available);
any
Pitpna mutation
(37 available)
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nervous system
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• Background Sensitivity: unlike in backgrounds containing the CAST/Ei allele of Nxf1, neurons with degenerative properties are found in the brain stem, cerebellar roof nuclei, spinal cord and dorsal root ganglia
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Allelic
Composition |
Pitpnavb/Pitpnavb
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Genetic
Background |
involves: C57BL/6J * DBA/2J |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitpnavb mutation
(1 available);
any
Pitpna mutation
(37 available)
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behavior/neurological
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• fine, rapid tremors are noticeable at 10 to 12 days of age
• coarse cerebellar tremor
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• progressive development of ascending motor paralysis
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mortality/aging
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• Background Sensitivity: mutant mice die by 30 days of age on an inbred strain background, but may survive up to 6 months of age on a mixed strain background
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nervous system
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• progressive degenerative changes are seen including severe intracellular vacuolization and evidence of cell death
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• Background Sensitivity: unlike in backgrounds containing the CAST/Ei allele of Nxf1, neurons in the deep cereberllar nuclei, lateral vestibular nucleus, reticular formation of the pons, and spinal cord exhibit a high frequency of neuropathologies including vacuolated neurons and reduced internal membrane structure staining
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• degeneration is progressive beginning with selected neurons in the spinal cord followed by neurons in the brainstem
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behavior/neurological
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• only mild tremors are observed
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nervous system
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N |
• no abnormalities are detected in the brains stem or spinal cord
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mortality/aging
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• improved survival compared with Nxf1Mvb1-C57BL/6J/Nxf1Mvb1-CAST/Ei Pitpnavb/Pitpnavb mice
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behavior/neurological
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• reduced tremor score compared with Nxf1Mvb1-C57BL/6J/Nxf1Mvb1-CAST/Ei Pitpnavb/Pitpnavb mice
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mortality/aging
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N |
• lethality observed in Pitpnavb mice is suppressed with mice living past 750 days compared to less than 100 days in Pitnavb homozygotes
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nervous system
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• fewer neurons with pathologies were observed than in Pitpnavb/Pitpnavb Nxf1Mvb1-CAST/Ei/Nxf1Mvb1-C57BL/6J mice
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mortality/aging
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• lethality observed in Pitpnavb mice is suppressed with mice living past 500 days compared to less than 100 days in Pitnavb homozygotes and more than 750 days in Pitnavb Nxf1mvb1-CAST/Ei homozygotes
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mortality/aging
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• improved survival compared with Nxf1Mvb1-C57BL/6J Pitpnavb double homozygotes
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behavior/neurological
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• reduced tremor score compared with Nxf1Mvb1-C57BL/6J Pitpnavb double homozygotes
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Analysis Tools