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Phenotypes Associated with This Genotype
Genotype
MGI:3794288
Allelic
Composition
Pmp22Tr-J/Pmp22+
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pmp22Tr-J mutation (2 available); any Pmp22 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• Schwann cell nuclei numbers are increased (J:39953)
• Shwann cell numbers and rates of apoptosis are increased compared to in wild-type mice (J:134811)
• however, treatment with curcumin decreases apoptosis rates of Schwann cells (J:134811)
• treatment with curcumin increases axonal size
• mice exhibit minor structural changes in dorsal root ganglion cells
• 40% to 60% of axons lack myelination (J:39953)

behavior/neurological
• mice are unable to remain on a rotarod as long as wild-type mice
• however, treatment with curcumin improves coordination
• beginning at 4 to 6 weeks of age, mice exhibit abnormal gait with hindlimb spaying

muscle
• mice exhibit muscle wasting

Mouse Models of Human Disease
OMIM ID Ref(s)
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A; CMT1A 118220 J:3394 , J:98231


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/24/2016
MGI 6.04
The Jackson Laboratory