Phenotypes associated with this allele

• Allele Symbol: Nefm^tm1Jpj
• Allele Name: targeted mutation 1, Jean-Pierre Julien
• Allele ID: MGI:2180106
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nefm^tm1Jpj/Nefm^tm1Jpj	involves: 129S1/Sv * 129X1/SvJ	MGI:3694635
hm2	Nefm^tm1Jpj/Nefm^tm1Jpj	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3694559
cx3	Nefh^tm1Dwc/Nefh^tm1Dwc Nefm^tm1Jpj/Nefm^tm1Jpj	involves: 129S1/Sv * 129X1/SvJ	MGI:3694631
cx4	Ina^tm1Jpj/Ina^tm1Jpj Nefm^tm1Jpj/Nefm^tm1Jpj	involves: 129S1/Sv * 129X1/SvJ	MGI:3694634
cx5	Nefh^tm1Jpj/Nefh^tm1Jpj Nefm^tm1Jpj/Nefm^tm1Jpj	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3694558

Genotype
MGI:3694635

hm1

• Allelic Composition: Nefm^tm1Jpj/Nefm^tm1Jpj
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

• ♀: 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: Nefm^tm1Jpj/Nefm^tm1Jpj
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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: Nefh^tm1Dwc/Nefh^tm1Dwc; Nefm^tm1Jpj/Nefm^tm1Jpj
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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: Ina^tm1Jpj/Ina^tm1Jpj; Nefm^tm1Jpj/Nefm^tm1Jpj
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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: Nefh^tm1Jpj/Nefh^tm1Jpj; Nefm^tm1Jpj/Nefm^tm1Jpj
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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 axon morphology ( J:56931 )

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)