Phenotypes associated with this allele

• Allele Symbol: Nefl^tm2.1Liem
• Allele Name: targeted mutation 2.1, Ronald KH Liem
• Allele ID: MGI:5749799
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Nefl^tm2.1Liem/Nefl^+	B6.Cg-Nefl^tm2.1Liem	MGI:5751579
ht2	Nefl^tm2.1Liem/Nefl^+	involves: 129S6/SvEvTac * C57BL/6J	MGI:5751582

Genotype
MGI:5751579

ht1

• Allelic Composition: Nefl^tm2.1Liem/Nefl⁺
• Genetic Background: B6.Cg-Nefl^tm2.1Liem

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

behavior/neurological

limb grasping ( J:220605 )

• 49% of mice exhibit clasping when lifted by the tail; clasping is already seen at 1-3 months of age

tremors ( J:220605 )

• 97% of mice exhibit tremor; tremor is already seen at 1-3 months of age

nervous system

abnormal pons morphology ( J:220605 )

• disorganized processes and inclusions in the pons

abnormal cerebral cortex morphology ( J:220605 )

• disorganized processes and inclusions in the cerebral cortex

abnormal cerebellum morphology ( J:220605 )

• disorganized processes and inclusions in the cerebellum

abnormal dorsal root ganglion morphology ( J:220605 )

• neurofilamentous aggregates in the dorsal root ganglia at 18 months of age; aggregates are composed of mutant protein

abnormal sciatic nerve morphology ( J:220605 )

• sciatic nerves show a reduction in the number of neurofilaments, an increase in the number of microtubules and a decrease in the axonal diameters

abnormal spinal cord grey matter morphology ( J:220605 )

• neurofilamentous aggregates are seen in the neuronal cell bodies in the gray matter at 18 months of age; aggregates are composed of mutant protein

nervous system inclusion bodies ( J:220605 )

• multiple neurofilamentous inclusions in the cell bodies and proximal axons of spinal cord neurons

• inclusions in the cerebellum, the cerebral cortex, and pons

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease type 2E		DOID:0110165	OMIM:607684	J:220605

Genotype
MGI:5751582

ht2

• Allelic Composition: Nefl^tm2.1Liem/Nefl⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

behavior/neurological

limb grasping ( J:220605 )

• 56% of mice exhibit clasping when lifted by the tail; clasping is already seen at 1-3 months of age

tremors ( J:220605 )

• more than 85% of mice exhibit tremor; tremor is already seen at 1-3 months of age