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Phenotypes Associated with This Genotype
Genotype
MGI:3625035
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 (33 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)
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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory