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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Nefmtm1Jpj
targeted mutation 1, Jean-Pierre Julien
MGI:2180106
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Nefmtm1Jpj/Nefmtm1Jpj involves: 129S1/Sv * 129X1/SvJ MGI:3694635
hm2
 		Nefmtm1Jpj/Nefmtm1Jpj involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3694559
cx3
 		Nefhtm1Dwc/Nefhtm1Dwc
Nefmtm1Jpj/Nefmtm1Jpj 		involves: 129S1/Sv * 129X1/SvJ MGI:3694631
cx4
 		Inatm1Jpj/Inatm1Jpj
Nefmtm1Jpj/Nefmtm1Jpj 		involves: 129S1/Sv * 129X1/SvJ MGI:3694634
cx5
 		Nefhtm1Jpj/Nefhtm1Jpj
Nefmtm1Jpj/Nefmtm1Jpj 		involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3694558


Genotype
MGI:3694635
hm1
Allelic
Composition		 Nefmtm1Jpj/Nefmtm1Jpj
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nefmtm1Jpj mutation (0 available); any Nefm mutation (28 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
abnormal axonal transport ( J:112938 )
• transport rate of alpha-internexin, neurofilament-high (NF-H), and neurofilament-light (NF-L) is increased in optic axons compared to wild-type; levels of these proteins is reduced also




Genotype
MGI:3694559
hm2
Allelic
Composition		 Nefmtm1Jpj/Nefmtm1Jpj
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nefmtm1Jpj mutation (0 available); any Nefm mutation (28 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
abnormal neuron morphology ( J:56931 )
• NF-L protein is detected in cell body and also migrates into axons
abnormal motor neuron morphology ( J:56931 )
• in mutants, caliber of large myelinated axons in L4 ventral roots is ~10% lower than in wild-type (avg caliber - 7 um)
• ventral root axons show substantial increase (184%) in microtubule content (472) compared to wild-type (256)
decreased motor neuron number ( J:56931 )
• modest reduction in ventral root axons is observed
abnormal axon morphology ( J:56931 )
• unimodal distribution of axonal calibers is observed
abnormal ventral spinal root morphology ( J:56931 )
• in mutants, large myelinated axons in L4 ventral roots are absent and caliber of small myelinated axons is increased (majority of ventral root axons - 1- 4 um in caliber)
• ventral root axons show slight increase (135%) in microtubule content (345) compared to wild-type (256)




Genotype
MGI:3694631
cx3
Allelic
Composition		 Nefhtm1Dwc/Nefhtm1Dwc
Nefmtm1Jpj/Nefmtm1Jpj
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nefhtm1Dwc mutation (1 available); any Nefh mutation (48 available)
Nefmtm1Jpj mutation (0 available); any Nefm mutation (28 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
abnormal axonal transport ( J:112938 )
• transport rate and levels of alpha-internexin and NF-L are markedly reduced compared to wild-type




Genotype
MGI:3694634
cx4
Allelic
Composition		 Inatm1Jpj/Inatm1Jpj
Nefmtm1Jpj/Nefmtm1Jpj
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Inatm1Jpj mutation (0 available); any Ina mutation (14 available)
Nefmtm1Jpj mutation (0 available); any Nefm mutation (28 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
abnormal axonal transport ( J:112938 )
• transport rate and levels of NF-H and NF-L are markedly reduced compared to wild-type




Genotype
MGI:3694558
cx5
Allelic
Composition		 Nefhtm1Jpj/Nefhtm1Jpj
Nefmtm1Jpj/Nefmtm1Jpj
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nefhtm1Jpj mutation (0 available); any Nefh mutation (48 available)
Nefmtm1Jpj mutation (0 available); any Nefm mutation (28 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
abnormal neuron morphology ( J:56931 )
• cell bodies and proximal dendrites of spinal cord motor neurons contain high levels of NF-L, while axons in white matter contain contain low levels
decreased motor neuron number ( J:56931 )
• number of ventral root axons is reduced ~24% compared to wild-type (786 axons vs 1040 axons)
abnormal ventral spinal root morphology ( J:56931 )
• caliber of ventral root axons have unimodal distribution compared to bimodal distribution in wild-type; calibers range from 1-3 um
• ventral root axons show substantial increase (200%) in microtubule content (512) compared to wild-type (256)




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Send questions and comments to User Support. 		last database update
04/23/2024
MGI 6.23 		The Jackson Laboratory