Phenotypes associated with this allele

• Allele Symbol: Nefl^tm1Jpj
• Allele Name: targeted mutation 1, Jean-Pierre Julien
• Allele ID: MGI:2180095
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nefl^tm1Jpj/Nefl^tm1Jpj	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3527973
cx2	Nefl^tm1Jpj/Nefl^tm1Jpj Tg(SOD1*G85R)148Dwc/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3527974

Genotype
MGI:3527973

hm1

• Allelic Composition: Nefl^tm1Jpj/Nefl^tm1Jpj
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

nervous system

abnormal axon morphology ( J:44421 )

• intermediate filament structures scarce in the axons of adults but present in new born mice

• density of microtubules increased dramatically

• large myelinated fibers of much smaller diameter than normal

• leads to a unimodal rather than bimodal size distribution

• myelin sheaths are normal even though the axonal diameter is smaller

• after sciatic or facial nerve crush, the number of regenerating axons was considerably reduced

• considerable growth was seen by 2 months after nerve crush however

abnormal ventral spinal root morphology ( J:56931 )

• axonal profile is similar to NF-H/NF-M mutants; reduction in ventral root axonal caliber is similar

Genotype
MGI:3527974

cx2

• Allelic Composition: Nefl^tm1Jpj/Nefl^tm1Jpj; Tg(SOD1*G85R)148Dwc/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

nervous system

axon degeneration ( J:76716 )

• at 12 months of age, no axon loss or degeneration in motor nerves

• mice start out with a 13% reduction of motor neurons

• further degeneration is delayed but ultimately reaches the same level of motor axon loss

• loss of axons in sensory neurons is increased

peripheral nervous system degeneration ( J:76716 )

• slower development of ALS symptoms than in the presence of the transgene alone