Phenotypes Associated with This Genotype

Genotype
MGI:5529628

• Allelic Composition: Dp(XTceal3-Plp1)1Gmh/Y
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

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

nervous system

nervous system phenotype ( J:199809 )

♂N • the blood brain barrier is intact

brain vacuoles ( J:199809 )

♂ • at 6 months of age

astrocytosis ( J:199809 )

♂ • in the spinal cord white and grey matter

decreased myelin sheath thickness ( J:199809 )

♂ • in the spinal cord ventral funiculi and in the ventral grey matter

abnormal spinal cord grey matter morphology ( J:199809 )

♂ • numerous thinly myelinated fibers, large vacuoles, degenerating fibers, and degenerating cells are seen throughout the grey matter

abnormal spinal cord ventral column morphology ( J:199809 )

♂ • large-caliber axons with abnormally thin myelin sheaths are seen

axon degeneration ( J:199809 )

♂ • following loss of myelin in the corpus callosum

♂ • degenerating fibers are abundant in the spinal cord

abnormal myelination ( J:199809 )

♂ • immunostaining indicates uneven and patchy myelin distribution in the corpus callosum at 3 months of age and this pattern is more prominent at 6 months of age

demyelination ( J:199809 )

♂ • at 3 and 6 months of age in the corpus callosum

♂ • progressive loss of myelin followed by axonal loss

behavior/neurological

abnormal reflex ( J:199809 )

♂ • mice fail to climb or grasp the handler's hand or splay their paws during tail suspension

abnormal gait ( J:199809 )

♂ • in gait analysis mice perform worse in terms of stand index, cadence, diagonal support, three-paw support, and base of support by 6 months of age

♂ • mice move more slowly and show flat-footedness at 6 months of age

♂ • hind paws appear to be more significantly affected compared to front paws

growth/size/body

decreased body size ( J:199809 )

♂ • at 6 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Pelizaeus-Merzbacher disease		DOID:3210	OMIM:312080	J:199809