Phenotypes associated with this allele

• Allele Symbol: Pmp22^tm1Lnot
• Allele Name: targeted mutation 1, Lucia Notterpek
• Allele ID: MGI:3614822
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pmp22^tm1Lnot/Pmp22^tm1Lnot	Not Specified	MGI:3625034
ht2	Pmp22^tm1Lnot/Pmp22^+	Not Specified	MGI:3625035

Genotype
MGI:3625034

hm1

• Allelic Composition: Pmp22^tm1Lnot/Pmp22^tm1Lnot
• Genetic Background: Not Specified

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

nervous system

abnormal Schwann cell morphology ( J:104989 )

• increase in the number of cells arrested at the promyelinating stage

abnormal neuron morphology ( J:104989 )

• about a 1.5-fold increase in nuclei density is seen in nerves with myelin abnormalities

abnormal axon morphology ( J:104989 )

• about a 19% reduction in axon diameter and a 23% reduction in nerve fiber diameter resulting an increased G ratio suggesting dysmyelination

• pockets of loose basal lamina are seen in cross sections of axons and Schwann cells are seen through 3 weeks of age

abnormal myelin sheath morphology ( J:104989 )

• at 3 weeks of age, tomacula, sausage-like myelin thickenings, are seen on the sciatic nerve

• paranodal tomacula are most common but internodal tomacula are also seen

• fewer tomacula are seen in adults

demyelination ( J:104989 )

• fewer tomacula and an increase in demyelinating profiles are seen in adults

behavior/neurological

limb grasping ( J:104989 )

• seen by 2 weeks of age

tremors ( J:104989 )

• seen by 2 weeks of age

abnormal gait ( J:104989 )

• hindered gait by 2 weeks of age

hindlimb paralysis ( J:104989 )

• distal muscle weakness progresses to hindlimb paralysis with age

abnormal sexual interaction ( J:104989 )

• impaired ability to mate

muscle

muscle weakness ( J:104989 )

• distal

growth/size/body

postnatal growth retardation ( J:104989 )

• by 3 weeks of age weigh about 2g less than wild-type littermates

Genotype
MGI:3625035

ht2

• Allelic Composition: Pmp22^tm1Lnot/Pmp22⁺
• Genetic Background: Not Specified

nervous system

abnormal myelin sheath morphology ( J:104989 )

• tomacula, sausage-like myelin thickenings, are seen on the sciatic nerve; however these are less common than in homozygotes

• the frequency of tomacula increases with age

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:104989 )

• motor deficits are seen by 5 months of age, later than in homozygotes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hereditary neuropathy with liability to pressure palsies		DOID:0060843	OMIM:162500	J:104989