About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pmp22tm1Lnot
targeted mutation 1, Lucia Notterpek
MGI:3614822
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pmp22tm1Lnot/Pmp22tm1Lnot Not Specified MGI:3625034
ht2
Pmp22tm1Lnot/Pmp22+ Not Specified MGI:3625035


Genotype
MGI:3625034
hm1
Allelic
Composition
Pmp22tm1Lnot/Pmp22tm1Lnot
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pmp22tm1Lnot mutation (0 available); any Pmp22 mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• increase in the number of cells arrested at the promyelinating stage
• about a 1.5-fold increase in nuclei density is seen in nerves with myelin abnormalities
• 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
• 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
• fewer tomacula and an increase in demyelinating profiles are seen in adults

behavior/neurological
• seen by 2 weeks of age
• seen by 2 weeks of age
• hindered gait by 2 weeks of age
• distal muscle weakness progresses to hindlimb paralysis with age
• impaired ability to mate

muscle
• distal

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




Genotype
MGI:3625035
ht2
Allelic
Composition
Pmp22tm1Lnot/Pmp22+
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pmp22tm1Lnot mutation (0 available); any Pmp22 mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 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
• 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





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
04/13/2021
MGI 6.16
The Jackson Laboratory