Phenotypes associated with this allele

• Allele Symbol: Pmp22^tm1Ueli
• Allele Name: targeted mutation 1, Ueli Suter
• Allele ID: MGI:2447704
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pmp22^tm1Ueli/Pmp22^tm1Ueli	involves: 129S/SvEv	MGI:3794447
hm2	Pmp22^tm1Ueli/Pmp22^tm1Ueli	involves: 129S/SvEv * C57BL/6	MGI:3794449
ht3	Pmp22^tm1Ueli/Pmp22^+	involves: 129S/SvEv	MGI:3794448

Genotype
MGI:3794447

hm1

• 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

Genotype
MGI:3794449

hm2

• Allelic Composition: Pmp22^tm1Ueli/Pmp22^tm1Ueli
• Genetic Background: involves: 129S/SvEv * C57BL/6

nervous system

abnormal Schwann cell morphology ( J:98118 )

• Schwann cell density is increased at P10 comapred to in wild-type mice

abnormal Schwann cell physiology ( J:98118 )

• at P21 and 10 weeks of age, mice exhibit increased Schwann cell apoptosis compared to in wild-type mice

increased Schwann cell proliferation ( J:98118 )

• at 10 weeks of age, Schwann cell proliferation is increased compared to in wild-type mice

abnormal myelination ( J:98118 )

• mice exhibit focal hypermyelination (tomacula formations)

cellular

increased Schwann cell proliferation ( J:98118 )

• at 10 weeks of age, Schwann cell proliferation is increased compared to in wild-type mice

Genotype
MGI:3794448

ht3

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

nervous system

abnormal axon morphology ( J:29517 )

abnormal myelin sheath morphology ( J:29517 )

• at day 24, mice exhibit rare tomacula that are less prominent than in homozygotes

abnormal myelination ( J:29517 )

• at day 24, mice exhibit rare tomacula that are less prominent than in homozygotes

behavior/neurological

abnormal motor coordination/balance ( J:29517 )

• mice sporadically exhibit walking defects similar to in homozygotes