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Phenotypes Associated with This Genotype
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phenotype observed in females
phenotype observed in males
N normal phenotype
• mice exhibit self-mutilation, presumably from sensory symptoms

• muscular atrophy is evident, with mice showing atrophy in axial and hindlimb muscles at P160
• symptoms are most severe in this line
• mice exhibit variable signs of muscle weakness such as clenching of the apws, dragging of hind limbs and floppy tail

nervous system
• sciatic nerves shows widening of myelin lamellae
• poorly compacted areas show absence of the intraperiod line and occasionally, the major dense line is uncompacted, indicating packing abnormalities
• occasional sciatic nerve fibers show thick and redundant myelin, likely indicating myelin outfolding or tomacula
• more frequent tomacula are seen at P7
• tomacula appear to originate from the paranodal region and contain poorly compacted myelin
• occasionally older mice show signs of axonal degeneration
• occasionally older mice exhibit demyelinating figures and short internodes suggesting remyelination
• however, no onion bulbs are seen at any age
• sciatic nerves at P28 show hypomyelination, with thin or absent myelin sheaths on many large caliber axons
• sciatic nerves at 7 months show more pronounced hypomyelination, with most large caliber axons showing very thin or absent myelin

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Charcot-Marie-Tooth disease type 1B DOID:0110152 OMIM:118200

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
MGI 6.16
The Jackson Laboratory