All Phenotypes Nefh<tm1Ral> MGI Mouse

About Help FAQ

Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Nefh^tm1Ral
targeted mutation 1, Robert A Lazzarini
MGI:2183425

Summary

4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nefh^tm1Ral/Nefh^tm1Ral	either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * Swiss Webster)	MGI:3852004
hm2	Nefh^tm1Ral/Nefh^tm1Ral	involves: 129S1/Sv * 129X1/SvJ	MGI:3851997
ht3	Nefh^tm1Ral/Nefh⁺	either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * Swiss Webster)	MGI:3852005
cx4	Nefh^tm1Ral/Nefh^tm1Ral Nefm^tm1Ral/Nefm^tm1Ral	involves: 129S1/Sv * 129X1/SvJ	MGI:3851998

Allelic Composition	Nefh^tm1Ral/Nefh^tm1Ral
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:
Nefh^tm1Ral mutation (0 available); any Nefh mutation (51 available)

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

nervous system

nervous system phenotype ( J:78119 )

N	• central and peripheral nervous system development is normal

abnormal axon morphology ( J:78119 )

• myelinated axons are smaller than normal

• mice have fewer large diameter axons than in wild-type mice

Allelic Composition	Nefh^tm1Ral/Nefh^tm1Ral
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nefh^tm1Ral mutation (0 available); any Nefh mutation (51 available)

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

Lumbar root axon abnormalities in Nefm^tm1Ral/Nefm^tm1Ral and Nefh^tm1Ral/Nefh^tm1Ral Nefm^tm1Ral/Nefm^tm1Ral mice, but not Nefh^tm1Ral/Nefh^tm1Ral mice

nervous system

abnormal axon morphology ( J:77656 )

• however, the number of large diameter axons and the total number of axons are normal

• 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

axon degeneration ( J:77656 )

• axonal degeneration is rarely observed

Allelic Composition	Nefh^tm1Ral/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:
Nefh^tm1Ral mutation (0 available); any Nefh mutation (51 available)

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

nervous system

abnormal axon morphology ( J:78119 )

• myelinated axons are smaller than normal but not as small as in homozygous mice

Allelic Composition	Nefh^tm1Ral/Nefh^tm1Ral Nefm^tm1Ral/Nefm^tm1Ral
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nefh^tm1Ral mutation (0 available); any Nefh mutation (51 available)
Nefm^tm1Ral 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 Nefm^tm1Ral/Nefm^tm1Ral Nefh^tm1Ral/Nefh^tm1Ral mice

nervous system

abnormal axon morphology ( J:77656 )

• 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

axon degeneration ( J:77656 )

• 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

hindlimb paralysis ( J:77656 )

• 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 07/05/2024 MGI 6.24