Phenotypes Associated with This Genotype

Genotype
MGI:5824743

• Allelic Composition: Tg(PMP22)C3Fbas/?
• Genetic Background: B6.Cg-Tg(PMP22)C3Fbas

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

nervous system

abnormal submucous nerve plexus morphology ( J:237901 )

• abnormal Remak fibers with an increase in membranous structures

abnormal Schwann cell morphology ( J:237901 )

• attenuated Schwann cell processes are occasionally observed

abnormal axon morphology ( J:237901 )

• abnormally large numbers of small axons are observed in some animals

axon degeneration ( J:237901 )

• atrophic fibers are occasionally observed

abnormal myelination ( J:237901 )

• myelination is delayed and never reaches control levels

• the phenotype is more severe than in Tg(PMP22)C22Fbas mice

dysmyelination ( J:237901 )

• peroneal nerve fibers from 3 week old mice are thinly myelinated or amyelinated as compared to wild-type

• a greater proportion of the abnormal fibers are found in the motor branch of the femoral nerve

• lumbar ventral roots have a higher proportion of abnormal fibers than dorsal roots or peripheral nerves

• 74% of peroneal and femoral nerve fibers are normally myelinated at 3 weeks increasing to 84% in adults, but never reaching 100%

hypermyelination ( J:237901 )

• small diameter fibers are hypermyelinated

abnormal action potential ( J:237901 )

• mean compound muscle action potential (CMAP) amplitude is decreased in adults, but not young mice, as compared to wild-type, but higher than in Tg(PMP22)C22Fbas mice

• mean compound nerve action potential (CNAP) amplitude is decreased as compared to wild-type, but higher than Tg(PMP22)C22Fbas mice

decreased nerve conduction velocity ( J:237901 )

• mean nerve conduction velocity is decreased as compared to wild-type, but higher than in Tg(PMP22)C22Fbas mice

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:237901 )

• neuromuscular SHIRPA scores are increased from week 3 to 24 indicating a decrease in performance, particularly in tremor, gait, tail elevation, touch escape, grip strength and wire maneuver

• scores are higher than wild-type, but less than Tg(PMP22)C22Fbas mice

decreased locomotor activity ( J:237901 )

• reduced locomotor activity as compared to wild-type

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease type 1A		DOID:0110148	OMIM:118220	J:237901