Phenotypes Associated with This Genotype

Genotype
MGI:3794447

• Allelic Composition: Pmp22^tm1Ueli/Pmp22^tm1Ueli
• Genetic Background: involves: 129S/SvEv

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

nervous system

convulsive seizures ( J:29517 )

• mice exhibit stress-induced convulsions

abnormal axon morphology ( J:29517 )

• axons appear compressed at 24 day old

abnormal myelin sheath morphology ( J:29517 )

• 24 day old mice exhibit prominent myelin thickenings consistent with redundant myelin loops with normal spacing (tomacula)

• at 10 weeks, mice exhibit myelin degeneration and tomacula degrade

abnormal myelination ( J:29517 )

• peripheral nervous system myelination is impaired

• 24 day old mice exhibit prominent myelin thickenings consistent with redundant myelin loops with normal spacing (tomacula)

abnormal action potential ( J:29517 )

• mice exhibit polyphasia of compound action potentials and increased motor latencies compared to in wild-type mice

• compound muscle action potential display temporal dispersions and reduced amplitude compared to in wild-type mice

decreased nerve conduction velocity ( J:29517 )

• in motor neurons

behavior/neurological

tremors ( J:29517 )

• mild

hindlimb paralysis ( J:29517 )

• beginning at P14, mice exhibit progressive hindlimb paralysis

convulsive seizures ( J:29517 )

• mice exhibit stress-induced convulsions

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hereditary neuropathy with liability to pressure palsies		DOID:0060843	OMIM:162500	J:29517