Phenotypes Associated with This Genotype

Genotype
MGI:3838180

• Allelic Composition: Plp1^tm1Kan/?
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

nervous system

abnormal axon morphology ( J:146665 )

• swollen axons are seen

abnormal myelin sheath morphology ( J:146665 )

• some attenuated myelin sheaths are seen around swollen axons

• however, in non swollen regions sheaths are of normal thickness

axon degeneration ( J:146665 )

• at 8 months of age occasional degenerating fibers are seen in the cervical region of the fasciculus gracilis

• at 18 months of age pronounced axonal degeneration is seen in the cervical segments in the thoracic region but not in the lumbar dorsal columns

behavior/neurological

ataxia ( J:146665 )

• gait ataxia is seen by 18 months of age

paraparesis ( J:146665 )

• weakness particularly of the hind limbs develops by 18 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Pelizaeus-Merzbacher disease		DOID:3210	OMIM:312080	J:146665