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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Nefhtm1Dwc
targeted mutation 1, Don W Cleveland
MGI:2183246
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Nefhtm1Dwc/Nefhtm1Dwc involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:3688403
cx2
Nefhtm1Dwc/Nefhtm1Dwc
Nefmtm1Jpj/Nefmtm1Jpj
involves: 129S1/Sv * 129X1/SvJ MGI:3694631


Genotype
MGI:3688403
hm1
Allelic
Composition
Nefhtm1Dwc/Nefhtm1Dwc
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nefhtm1Dwc mutation (1 available); any Nefh mutation (47 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• exhibit an inhibition of radial growth of the largest caliber axons of L5 dorsal roots; growth of the smallest axons is eliminated, while growth of the largest class continues but at a reduced level
• exhibit a decrease in the very largest diameter axons and shifts the distribution toward smaller sizes between 4 and 9 weeks of age and by 9 weeks of age, exhibit a 25 and 20% reduction in total axon area of both large and small motor axons, respectively
• by 9 weeks of age, the total number of surviving motor axons is about 13% lower than wild-type, reflecting a preferential loss of large diameter axons (L5 ventral root)
• exhibit a 60% increase in microtubule density in motor axons
• by 9 weeks of age, the total number of surviving sensory axons is about 19% lower than in wild-type, reflecting a preferential loss of large diameter axons (sensory root)

cellular
• exhibit an inhibition of radial growth of the largest caliber axons of L5 dorsal roots; growth of the smallest axons is eliminated, while growth of the largest class continues but at a reduced level




Genotype
MGI:3694631
cx2
Allelic
Composition
Nefhtm1Dwc/Nefhtm1Dwc
Nefmtm1Jpj/Nefmtm1Jpj
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nefhtm1Dwc mutation (1 available); any Nefh mutation (47 available)
Nefmtm1Jpj mutation (0 available); any Nefm mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• transport rate and levels of alpha-internexin and NF-L are markedly reduced compared to wild-type





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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory