Phenotypes Associated with This Genotype

Genotype
MGI:5776501

• Allelic Composition: Tg(Plp)72Kan/Tg(Plp)72Kan
• Genetic Background: B6N.Cg-Tg(Plp)72Kan

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

nervous system

abnormal optic tract morphology ( J:229229 )

• the optic tract shows some demyelination and contains numerous active microglia/macrophages

• in the chiasmal end of the optic tract, some axons show disruption of the cytoskeleton and/or accumulations of membranous organelles

decreased myelin sheath thickness ( J:229229 )

• P60 mice exhibit thinner myelin sheaths

abnormal optic nerve morphology ( J:229229 )

• proximal optic nerve shows numerous naked axons that appear normal with interspersed astrocytic processes

• the distal (chiasmal) end of the optic nerve is largely demyelinated and contains numerous active microglia/macrophages

• in the chiasmal end of the optic nerve, some axons show disruption of the cytoskeleton and/or accumulations of membranous organelles

• in the more distal portions of the P120 optic nerves, the numbers of CD45+ cells per optic nerve section are elevated more than 10-fold, however the completely demyelinated retinal portion shows no significant increase

demyelination ( J:229229 )

• the optic nerve shows a rostral to caudal progression of active demyelination with microglial/macrophage activation and chronic hypomyelination due to dys- and demyelination with low-grade inflammation

dysmyelination ( J:229229 )

• moderate dysmyelination

decreased nerve conduction velocity ( J:229229 )

• the duration of the stimulus-evoked compound action potentials is longer in the optic nerve, indicating a decrease in conduction velocity

abnormal axonal transport ( J:229229 )

• mice exhibit impaired retrograde axonal transport in the optic nerve at sites associated with local inflammation and damaged myelin

vision/eye

abnormal optic nerve morphology ( J:229229 )

• proximal optic nerve shows numerous naked axons that appear normal with interspersed astrocytic processes

• the distal (chiasmal) end of the optic nerve is largely demyelinated and contains numerous active microglia/macrophages

• in the chiasmal end of the optic nerve, some axons show disruption of the cytoskeleton and/or accumulations of membranous organelles

• in the more distal portions of the P120 optic nerves, the numbers of CD45+ cells per optic nerve section are elevated more than 10-fold, however the completely demyelinated retinal portion shows no significant increase

cellular

abnormal cell cytoskeleton morphology ( J:229229 )

• in the chiasmal end of the optic tract, some axons show disruption of the cytoskeleton and/or accumulations of membranous organelles

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Pelizaeus-Merzbacher disease		DOID:3210	OMIM:312080	J:229229