Phenotypes Associated with This Genotype

Genotype
MGI:5491206

• Allelic Composition: Tg(Lmnb1)1Yfu/0
• Genetic Background: involves: C57BL/6J

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

behavior/neurological

behavior/neurological phenotype ( J:197168 )

N • mice exhibit normal spontaneous avoidance

abnormal spatial learning ( J:197168 )

• impaired performance in a Morris water maze

• impaired long-term spatial associated learning and fear memory of an averse experience in a step-through passive avoidance task with no increase in latency to avoid the light and step through the dark chamber where they received an electric shock the day before

abnormal spatial reference memory ( J:197168 )

• impaired spatial memory retention in a Morris water maze

• impaired long-term spatial associated learning and fear memory of an averse experience in a step-through passive avoidance task with no increase in latency to avoid the light and step through the dark chamber where they received an electric shock the day before

tremors ( J:197168 )

impaired coordination ( J:197168 )

• progressive impairment on an accelerating rotarod (at 24, but not 12, months) and balance beam (at 12 months and worse at 24 months)

straub tail ( J:197168 )

• tail extension

seizures ( J:197168 )

• varying from generalized spasms and tremors to generalized clonic activity with atonia and tail extension

• frequent spontaneous epileptic activity, including epileptiform discharge

increased susceptibility to pharmacologically induced seizures ( J:197168 )

• when treated with pentylenetetrazol

clonic seizures ( J:197168 )

• with atonia and tail extension

abnormal spike wave discharge ( J:197168 )

• frequent spontaneous epileptic activity, including epileptiform discharge and a 20-fold increase in the number of interictal spikes

nervous system

nervous system phenotype ( J:197168 )

N • mice exhibit no obvious inflammation in the brain

seizures ( J:197168 )

• varying from generalized spasms and tremors to generalized clonic activity with atonia and tail extension

• frequent spontaneous epileptic activity, including epileptiform discharge

increased susceptibility to pharmacologically induced seizures ( J:197168 )

• when treated with pentylenetetrazol

clonic seizures ( J:197168 )

• with atonia and tail extension

abnormal spike wave discharge ( J:197168 )

• frequent spontaneous epileptic activity, including epileptiform discharge and a 20-fold increase in the number of interictal spikes

abnormal myelin sheath morphology ( J:197168 )

• outfoldings, extensions and invaginations originating from the myelin sheath

axon degeneration ( J:197168 )

• disintegration and degradation

abnormal oligodendrocyte physiology ( J:197168 )

• frequently dying and degenerating at 24 months

demyelination ( J:197168 )

• in some fibers at 12, but not 24, months

hypermyelination ( J:197168 )

• in some fibers

muscle

muscle spasm ( J:197168 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
adult-onset autosomal dominant demyelinating leukodystrophy		DOID:0060785	OMIM:169500	J:197168