Phenotypes Associated with This Genotype

Genotype
MGI:3640132

• Allelic Composition: Pmp22^Tr/Pmp22⁺
• Genetic Background: Not Specified

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

mortality/aging

mortality/aging ( J:27475 )

N • mice have normal a lifespan

lethality at weaning, complete penetrance ( J:13038 )

• majority die soon after 3 weeks of age unless they are provided with easily accessible moist food

behavior/neurological

tremors ( J:13038 , J:27475 )

• adults exhibit trembling consisting of a very rapid side to side movement of the head and neck (J:13038)

abnormal gait ( J:13038 , J:27475 )

• exhibit difficulty walking and appear to totter along on the tips of toes (J:13038)

forelimb paralysis ( J:13038 )

• young mutants (by 3 weeks of age) exhibit spastic paralysis affecting both pairs of legs that persists into adult life but is less severe than at young age

hindlimb paralysis ( J:13038 )

• young mutants (by 3 weeks of age) exhibit spastic paralysis affecting both pairs of legs that persists into adult life but is less severe than at young age

• paralysis is more conspicuous in the hind legs, which are held out stiffly behind or to the sides

convulsive seizures ( J:13038 )

• young mutants (by 3 weeks of age) exhibit convulsions in response to stimulation

• convulsions are not normally seen in adults but can be induced by a strong stimulus

nervous system

convulsive seizures ( J:13038 )

• young mutants (by 3 weeks of age) exhibit convulsions in response to stimulation

• convulsions are not normally seen in adults but can be induced by a strong stimulus

abnormal Schwann cell morphology ( J:27475 )

• Shwann cells attach to axons but fail to form myelin

demyelination ( J:27475 )

• axons only have a thin layer of myelination

reproductive system

reduced male fertility ( J:13038 )

♂ • males are frequently sterile and those that breed do so irregularly

growth/size/body

decreased body size ( J:13038 )

• smaller at 3 weeks of age

postnatal growth retardation ( J:13038 )

cellular

abnormal Schwann cell morphology ( J:27475 )

• Shwann cells attach to axons but fail to form myelin