Phenotypes associated with this allele

• Allele Symbol: Nefh^tm2Dwc
• Allele Name: targeted mutation 2, Don W Cleveland
• Allele ID: MGI:2387787
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nefh^tm2Dwc/Nefh^tm2Dwc	involves: 129S1/Sv * 129X1/SvJ	MGI:3842786
hm2	Nefh^tm2Dwc/Nefh^tm2Dwc	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3842785
cx3	Nefh^tm2Dwc/Nefh^tm2Dwc Nefm^tm1Mvr/Nefm^tm1Mvr	involves: 129S1/Sv * 129X1/SvJ	MGI:3842789

Genotype
MGI:3842786

hm1

• Allelic Composition: Nefh^tm2Dwc/Nefh^tm2Dwc
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

nervous system

nervous system phenotype ( J:87156 )

N • despite neurofilament abnormalities, no differences in recovery from crush injury of the sciatic nerve are detected

abnormal neuron differentiation ( J:87156 )

• radial growth of motor axons is slowed but the final size of axons is not different from controls

behavior/neurological

behavior/neurological phenotype ( J:87156 )

N • despite defects in axon morphology, no locomotor abnormalities are detected

cellular

abnormal neuron differentiation ( J:87156 )

• radial growth of motor axons is slowed but the final size of axons is not different from controls

Genotype
MGI:3842785

hm2

• Allelic Composition: Nefh^tm2Dwc/Nefh^tm2Dwc
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

nervous system

nervous system phenotype ( J:78725 )

N • despite abnormalities in neurofilament connections, no defects are detected in the rate of axonal transport or in the propagation of electric impulses along the nerves

abnormal axon morphology ( J:78725 )

• fewer crossbridges span between adjacent neurofilaments and some of the remaining crossbridges are forked

• increase in the number of areas of close apposition of neurofilaments

Genotype
MGI:3842789

cx3

• Allelic Composition: Nefh^tm2Dwc/Nefh^tm2Dwc; Nefm^tm1Mvr/Nefm^tm1Mvr
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

nervous system

nervous system phenotype ( J:87156 )

N • despite neurofilament abnormalities, no differences in recovery from crush injury of the sciatic nerve are detected

abnormal axon morphology ( J:87156 )

• at 2 months of age the number of motor axons with cross sections greater than 2 um is reduced by about 50% compared to mice homozygous for Nefm^tm1Mvr alone

• but by 6 months of age the size distribution of axons is indistinguishable from that of mice homozygous for Nefm^tm1Mvr alone

• nearest neighbor distances for neurofilaments are reduced compared to wild-type and single homozygous controls

• crossbridges spanning between neurofilaments are almost completely absent and neurofilaments are more curved forming wavy, irregular arrays

• axoplasm is less well organized with increased neurofilament clustering, increased variability in microtubule content, and increased mitochondrial content in the proximal axonal segments

abnormal action potential ( J:87156 )

• slower propagation of action potential in the sciatic nerve at 5 - 6 months of age

behavior/neurological

behavior/neurological phenotype ( J:87156 )

N • despite defects in axon morphology and physiology, no locomotor abnormalities are detected