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Phenotypes Associated with This Genotype
Genotype
MGI:5460859
Allelic
Composition
Fgd4tm1.1Ics/Fgd4tm1.1Ics
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgd4tm1.1Ics mutation (0 available); any Fgd4 mutation (45 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• peripheral nerves show aberrant myelin during early steps of myelination and in myelin maintenance, including myelin infoldings and outfoldings of various complexities, redundant myelin loops, degradation of myelin and signs of demyelination and remyelination, both around nodes of Ranvier and Schmidt-Lanterman incisures
• mutants at P5 already show aberrant myelin structures in the sciatic nerve
• peripheral nerves of older mice show axons without myelin or with abnormally thin myelin, indicating demyelination and incomplete remyelination
• early onset of progressive dysmyelinating and demyelinating peripheral neuropathy, with distal nerve fibers more affected than proximal ones (distally accentuated neuropathy); sensory and motor fibers are affected
• mutants show more fibers with aberrant myelin structures from P14 to 80 weeks of age, with 6% of fibers affected at 2 weeks and reaching 40% by 80 weeks
• early onset of progressive dysmyelinating and demyelinating peripheral neuropathy, with distal nerve fibers more affected than proximal ones (distally accentuated neuropathy); sensory and motor fibers are affected
• steep rise in demyelination/remyelination between 60 and 80 weeks of age
• motor fibers of 60 week old mutants exhibit a moderate increase in distal latencies and a mild increase in F-wave latencies, reduction in nerve conduction velocity and dispersed compound muscle action potentials with mildly reduced amplitudes
• motor fibers of 60 week old mutants exhibit dispersed compound muscle action potentials with mildly reduced amplitudes
• motor fibers of 60 week old mutants exhibit a reduction in nerve conduction velocity

behavior/neurological
• 60 week old mutants show mildly impaired grip strength
• however, rotarod performance and footprint analysis are normal

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Charcot-Marie-Tooth disease type 4H DOID:0110192 OMIM:609311
J:190437


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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last database update
10/15/2019
MGI 6.14
The Jackson Laboratory