Phenotypes Associated with This Genotype

Genotype
MGI:3625034

• Allelic Composition: Pmp22^tm1Lnot/Pmp22^tm1Lnot
• Genetic Background: Not Specified

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

nervous system

abnormal Schwann cell morphology ( J:104989 )

• increase in the number of cells arrested at the promyelinating stage

abnormal neuron morphology ( J:104989 )

• about a 1.5-fold increase in nuclei density is seen in nerves with myelin abnormalities

abnormal axon morphology ( J:104989 )

• about a 19% reduction in axon diameter and a 23% reduction in nerve fiber diameter resulting an increased G ratio suggesting dysmyelination

• pockets of loose basal lamina are seen in cross sections of axons and Schwann cells are seen through 3 weeks of age

abnormal myelin sheath morphology ( J:104989 )

• at 3 weeks of age, tomacula, sausage-like myelin thickenings, are seen on the sciatic nerve

• paranodal tomacula are most common but internodal tomacula are also seen

• fewer tomacula are seen in adults

demyelination ( J:104989 )

• fewer tomacula and an increase in demyelinating profiles are seen in adults

behavior/neurological

limb grasping ( J:104989 )

• seen by 2 weeks of age

tremors ( J:104989 )

• seen by 2 weeks of age

abnormal gait ( J:104989 )

• hindered gait by 2 weeks of age

hindlimb paralysis ( J:104989 )

• distal muscle weakness progresses to hindlimb paralysis with age

abnormal sexual interaction ( J:104989 )

• impaired ability to mate

muscle

muscle weakness ( J:104989 )

• distal

growth/size/body

postnatal growth retardation ( J:104989 )

• by 3 weeks of age weigh about 2g less than wild-type littermates