Phenotypes Associated with This Genotype

Genotype
MGI:3794288

• Allelic Composition: Pmp22^Tr-J/Pmp22⁺
• Genetic Background: involves: C57BL/6

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

nervous system

abnormal Schwann cell morphology ( J:39953 , J:134811 )

• 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)

abnormal axon morphology ( J:134811 )

• treatment with curcumin increases axonal size

abnormal dorsal root ganglion morphology ( J:39953 )

• mice exhibit minor structural changes in dorsal root ganglion cells

abnormal myelination ( J:39953 , J:98231 )

• 40% to 60% of axons lack myelination (J:39953)

behavior/neurological

impaired coordination ( J:134811 )

• mice are unable to remain on a rotarod as long as wild-type mice

• however, treatment with curcumin improves coordination

abnormal gait ( J:39953 )

• beginning at 4 to 6 weeks of age, mice exhibit abnormal gait with hindlimb spaying

muscle

muscle degeneration ( J:39953 )

• mice exhibit muscle wasting

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease type 1A		DOID:0110148	OMIM:118220	J:3394 , J:98231