Phenotypes Associated with This Genotype

Genotype
MGI:3794294

• Allelic Composition: Pmp22^Tr-J/Pmp22⁺
• Genetic Background: B6.Cg-Pmp22^Tr-J Krt25^Re/+ +/J

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

nervous system

demyelination ( J:101812 )

• at 72 days, mice exhibit severe hypomyelination and the number of myelinated nerves is decreased compared to in wild-type mice

• 'onion bulb' formations are evidence of repetitive cycles of demyelination and remyelination

abnormal action potential ( J:101812 )

• at 30 days of age, compound muscle action potential (CMAP) amplitude is reduced 85%, distal motor latency is prolonged 112%, conduction velocity is reduced 81%, and CMAP duration is increased 253% compared to in wild-type mice

• at 72 days of age, CMAP amplitude is reduced 87%, distal motor latency is prolonged 77%, conduction velocity is reduced 72%, and CMAP duration is increased 326% compared to in wild-type mice

cellular

abnormal cell physiology ( J:97015 )

• proteosome activity is impaired

abnormal autophagy ( J:119095 )

• autophagy is induced in neuropathic mouse nerves unlike in wild-type mice

• however, experimentally induced autophagy and or/ chaperones hinders Pmp22 protein aggregation

homeostasis/metabolism

abnormal autophagy ( J:119095 )

• autophagy is induced in neuropathic mouse nerves unlike in wild-type mice

• however, experimentally induced autophagy and or/ chaperones hinders Pmp22 protein aggregation

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:101812