About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Nefhtm1Ral
targeted mutation 1, Robert A Lazzarini
MGI:2183425
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Nefhtm1Ral/Nefhtm1Ral either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * Swiss Webster) MGI:3852004
hm2
Nefhtm1Ral/Nefhtm1Ral involves: 129S1/Sv * 129X1/SvJ MGI:3851997
ht3
Nefhtm1Ral/Nefh+ either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * Swiss Webster) MGI:3852005
cx4
Nefhtm1Ral/Nefhtm1Ral
Nefmtm1Ral/Nefmtm1Ral
involves: 129S1/Sv * 129X1/SvJ MGI:3851998


Genotype
MGI:3852004
hm1
Allelic
Composition
Nefhtm1Ral/Nefhtm1Ral
Genetic
Background
either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * Swiss Webster)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nefhtm1Ral mutation (0 available); any Nefh mutation (47 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• central and peripheral nervous system development is normal
• myelinated axons are smaller than normal
• mice have fewer large diameter axons than in wild-type mice




Genotype
MGI:3851997
hm2
Allelic
Composition
Nefhtm1Ral/Nefhtm1Ral
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nefhtm1Ral mutation (0 available); any Nefh mutation (47 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Lumbar root axon abnormalities in Nefmtm1Ral/Nefmtm1Ral and Nefhtm1Ral/Nefhtm1Ral Nefmtm1Ral/Nefmtm1Ral mice, but not Nefhtm1Ral/Nefhtm1Ral mice

nervous system
• myelinated axons are smaller than normal
• at at 2 years, axonal diameter of ventral lumbar roots is reduced within 10% of wild-type; dorsal root axons appear normal
• however, the number of large diameter axons and the total number of axons are normal
• axonal degeneration is rarely observed




Genotype
MGI:3852005
ht3
Allelic
Composition
Nefhtm1Ral/Nefh+
Genetic
Background
either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * Swiss Webster)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nefhtm1Ral mutation (0 available); any Nefh mutation (47 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• myelinated axons are smaller than normal but not as small as in homozygous mice




Genotype
MGI:3851998
cx4
Allelic
Composition
Nefhtm1Ral/Nefhtm1Ral
Nefmtm1Ral/Nefmtm1Ral
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nefhtm1Ral mutation (0 available); any Nefh mutation (47 available)
Nefmtm1Ral mutation (0 available); any Nefm mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Hind limb paralysis develops in two year old Nefmtm1Ral/Nefmtm1Ral Nefhtm1Ral/Nefhtm1Ral mice

nervous system
• myelinated axons are smaller than normal
• myelinated axons of lumbar ventral and dorsal roots are irregular in shape and appear shrunken and collapsed unlike in wild-type mice
• occasionally ballooned axons are observed unlike in wild-type mice
• at 4 months, axonal diameters in ventral roots are decreased more than 30% unlike in wild-type mice
• at 2 years, axonal diameter in ventral roots is reduced to less than 25% of wild-type
• mice have fewer large diameter axons in ventral and dorsal roots than in wild-type mice
• however, mice have normal numbers of axons
• axons in lumbar ventral roots are devoid of neurofilaments at 2 years of age
• axonal degeneration is rarely observed
• age-associated axonal atrophy in the lumbar dorsal and ventral roots is observed after 1 year of age unlike in wild-type mice

behavior/neurological
• in 4 of 5 mice at 2 years





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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
11/12/2024
MGI 6.24
The Jackson Laboratory