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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Pitpnavb
vibrator
MGI:1856642
Summary 8 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Pitpnavb/Pitpnavb B6C3Fe MGI:2672134
hm2
 		Pitpnavb/Pitpnavb involves: C3HeB/Fe * C57BL/6J * DBA/2J MGI:3719465
hm3
 		Pitpnavb/Pitpnavb involves: C57BL/6J * DBA/2J MGI:5636040
cx4
 		Nxf1Mvb1/Nxf1Mvb1
Pitpnavb/Pitpnavb 		involves: C3HeB/Fe * C57BL/6J * CAST/Ei * DBA/2J MGI:3719467
cx5
 		Nxf1em1Haml/Nxf1Mvb1
Pitpnavb/Pitpnavb 		involves: C57BL/6 * DBA/2J MGI:5629975
cx6
 		Nxf1Mvb1/Nxf1Mvb1
Pitpnavb/Pitpnavb 		involves: C57BL/6J * CAST/Ei * DBA/2J MGI:3722644
cx7
 		Nxf1Mvb1/Nxf1+
Pitpnavb/Pitpnavb 		involves: C57BL/6J * CAST/Ei * DBA/2J MGI:3722646
cx8
 		Nxf1em1Haml/Nxf1+
Pitpnavb/Pitpnavb 		involves: C57BL/6J * DBA/2J MGI:5629974


Genotype
MGI:2672134
hm1
Allelic
Composition		 Pitpnavb/Pitpnavb
Genetic
Background		 B6C3Fe
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitpnavb mutation (1 available); any Pitpna mutation (37 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:40754 )
• mice do not survive past 42 days

behavior/neurological
tremors ( J:40754 )
• severe

nervous system
abnormal neuron morphology ( J:40754 )
• 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
chromatolysis ( J:40754 )
• some neurons are swollen and undergoing central chromatolysis
• nerves in the lateral cerebellar nucleus, lateral vestibular nucleus and the reticular formation undergo chromatolysis
neuron degeneration ( J:40754 )
• 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
abnormal spinal cord morphology ( J:40754 )
• neurons in the inner laminae are abnormal




Genotype
MGI:3719465
hm2
Allelic
Composition		 Pitpnavb/Pitpnavb
Genetic
Background		 involves: C3HeB/Fe * C57BL/6J * DBA/2J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitpnavb mutation (1 available); any Pitpna mutation (37 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
neuron degeneration ( J:40754 )
• 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




Genotype
MGI:5636040
hm3
Allelic
Composition		 Pitpnavb/Pitpnavb
Genetic
Background		 involves: C57BL/6J * DBA/2J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitpnavb mutation (1 available); any Pitpna mutation (37 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological
tremors ( J:6896 )
• fine, rapid tremors are noticeable at 10 to 12 days of age
• coarse cerebellar tremor
abnormal motor coordination/balance ( J:6896 )
• progressive development of ascending motor paralysis

mortality/aging
lethality, complete penetrance ( J:6896 )
• 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

nervous system
abnormal cerebellum morphology ( J:6896 )
• progressive degenerative changes are seen including severe intracellular vacuolization and evidence of cell death
abnormal neuron morphology ( J:86371 )
• 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
neuron degeneration ( J:6896 )
• degeneration is progressive beginning with selected neurons in the spinal cord followed by neurons in the brainstem




Genotype
MGI:3719467
cx4
Allelic
Composition		 Nxf1Mvb1/Nxf1Mvb1
Pitpnavb/Pitpnavb
Genetic
Background		 involves: C3HeB/Fe * C57BL/6J * CAST/Ei * DBA/2J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nxf1Mvb1 mutation (1 available); any Nxf1 mutation (36 available)
Pitpnavb mutation (1 available); any Pitpna mutation (37 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological
tremors ( J:40754 )
• only mild tremors are observed

nervous system
nervous system phenotype ( J:40754 )
N
• no abnormalities are detected in the brains stem or spinal cord




Genotype
MGI:5629975
cx5
Allelic
Composition		 Nxf1em1Haml/Nxf1Mvb1
Pitpnavb/Pitpnavb
Genetic
Background		 involves: C57BL/6 * DBA/2J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nxf1em1Haml mutation (1 available); any Nxf1 mutation (36 available)
Nxf1Mvb1 mutation (1 available); any Nxf1 mutation (36 available)
Pitpnavb mutation (1 available); any Pitpna mutation (37 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
abnormal survival ( J:219914 )
• improved survival compared with Nxf1Mvb1-C57BL/6J/Nxf1Mvb1-CAST/Ei Pitpnavb/Pitpnavb mice

behavior/neurological
tremors ( J:219914 )
• reduced tremor score compared with Nxf1Mvb1-C57BL/6J/Nxf1Mvb1-CAST/Ei Pitpnavb/Pitpnavb mice




Genotype
MGI:3722644
cx6
Allelic
Composition		 Nxf1Mvb1/Nxf1Mvb1
Pitpnavb/Pitpnavb
Genetic
Background		 involves: C57BL/6J * CAST/Ei * DBA/2J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nxf1Mvb1 mutation (1 available); any Nxf1 mutation (36 available)
Pitpnavb mutation (1 available); any Pitpna mutation (37 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
mortality/aging ( J:86371 )
N
• lethality observed in Pitpnavb mice is suppressed with mice living past 750 days compared to less than 100 days in Pitnavb homozygotes

nervous system
abnormal neuron morphology ( J:86371 )
• fewer neurons with pathologies were observed than in Pitpnavb/Pitpnavb Nxf1Mvb1-CAST/Ei/Nxf1Mvb1-C57BL/6J mice




Genotype
MGI:3722646
cx7
Allelic
Composition		 Nxf1Mvb1/Nxf1+
Pitpnavb/Pitpnavb
Genetic
Background		 involves: C57BL/6J * CAST/Ei * DBA/2J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nxf1Mvb1 mutation (1 available); any Nxf1 mutation (36 available)
Pitpnavb mutation (1 available); any Pitpna mutation (37 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:86371 )
• 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




Genotype
MGI:5629974
cx8
Allelic
Composition		 Nxf1em1Haml/Nxf1+
Pitpnavb/Pitpnavb
Genetic
Background		 involves: C57BL/6J * DBA/2J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nxf1em1Haml mutation (1 available); any Nxf1 mutation (36 available)
Pitpnavb mutation (1 available); any Pitpna mutation (37 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
abnormal survival ( J:219914 )
• improved survival compared with Nxf1Mvb1-C57BL/6J Pitpnavb double homozygotes

behavior/neurological
tremors ( J:219914 )
• reduced tremor score compared with Nxf1Mvb1-C57BL/6J Pitpnavb double homozygotes




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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory