Phenotypes associated with this allele

• Allele Symbol: Pmp22^Tr
• Allele Name: trembler
• Allele ID: MGI:1856216
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pmp22^Tr/Pmp22^Tr	Not Specified	MGI:3794284
ht2	Pmp22^Tr/Pmp22^+	Not Specified	MGI:3640132
ot3	Pmp22^Tr/?	involves: CBA	MGI:3794451
ot4	Pmp22^Tr/?	Not Specified	MGI:3794280

Genotype
MGI:3794284

hm1

• Allelic Composition: Pmp22^Tr/Pmp22^Tr
• 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

nervous system

abnormal Schwann cell morphology ( J:27475 )

• Shwann cells attach to axons but fail to form myelin

demyelination ( J:27475 )

• axons are virtually devoid of myelin

behavior/neurological

tremors ( J:27475 )

abnormal gait ( J:27475 )

cellular

abnormal Schwann cell morphology ( J:27475 )

• Shwann cells attach to axons but fail to form myelin

Genotype
MGI:3640132

ht2

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

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

Genotype
MGI:3794451

ot3

• Allelic Composition: Pmp22^Tr/?
• Genetic Background: involves: CBA

nervous system

abnormal Schwann cell morphology ( J:98118 )

• Schwann cell density is increased from P4 onwards compared to in wild-type mice

• at P10 and 10 weeks of age, Schwann cell proliferation is increased compared to in wild-type mice

• at P21 and 10 weeks of age, mice exhibit increased Schwann cell apoptosis compared to in wild-type mice

cellular

abnormal Schwann cell morphology ( J:98118 )

• Schwann cell density is increased from P4 onwards compared to in wild-type mice

• at P10 and 10 weeks of age, Schwann cell proliferation is increased compared to in wild-type mice

• at P21 and 10 weeks of age, mice exhibit increased Schwann cell apoptosis compared to in wild-type mice

Genotype
MGI:3794280

ot4

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

nervous system

seizures ( J:7222 )

abnormal Schwann cell morphology ( J:7222 )

abnormal myelination ( J:7222 )

behavior/neurological

tremors ( J:7222 )

abnormal gait ( J:7222 )

seizures ( J:7222 )

cellular

abnormal Schwann cell morphology ( J:7222 )