Phenotypes Associated with This Genotype

Genotype
MGI:3527973

• 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