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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Nefhtm1Jpj
targeted mutation 1, Jean-Pierre Julien
MGI:2180125
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Nefhtm1Jpj/Nefhtm1Jpj involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3694560
cx2
 		Nefhtm1Jpj/Nefhtm1Jpj
Nefmtm1Jpj/Nefmtm1Jpj 		involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3694558


Genotype
MGI:3694560
hm1
Allelic
Composition		 Nefhtm1Jpj/Nefhtm1Jpj
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nefhtm1Jpj mutation (0 available); any Nefh mutation (48 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
abnormal ventral spinal root morphology ( J:56931 )
• in mutants, caliber of large myelinated axons in L4 ventral roots is ~10% lower than in wild-type (avg caliber - 7 um)
• ventral root axons show substantial increase (184%) in microtubule content (472) compared to wild-type (256)




Genotype
MGI:3694558
cx2
Allelic
Composition		 Nefhtm1Jpj/Nefhtm1Jpj
Nefmtm1Jpj/Nefmtm1Jpj
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nefhtm1Jpj mutation (0 available); any Nefh mutation (48 available)
Nefmtm1Jpj mutation (0 available); any Nefm mutation (28 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
abnormal neuron morphology ( J:56931 )
• cell bodies and proximal dendrites of spinal cord motor neurons contain high levels of NF-L, while axons in white matter contain contain low levels
decreased motor neuron number ( J:56931 )
• number of ventral root axons is reduced ~24% compared to wild-type (786 axons vs 1040 axons)
abnormal ventral spinal root morphology ( J:56931 )
• caliber of ventral root axons have unimodal distribution compared to bimodal distribution in wild-type; calibers range from 1-3 um
• ventral root axons show substantial increase (200%) in microtubule content (512) compared to wild-type (256)




Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
04/23/2024
MGI 6.23 		The Jackson Laboratory