About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pmp22Tr-J
trembler Jackson
MGI:1856217
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pmp22Tr-J/Pmp22Tr-J involves: C57BL/6 MGI:3794281
ht2
Pmp22Tr-J/Pmp22+ B6.Cg-Pmp22Tr-J Krt25Re/+ +/J MGI:3794294
ht3
Pmp22Tr-J/Pmp22+ involves: C57BL/6 MGI:3794288
ot4
Pmp22Tr-J/? involves: C57BL/6 MGI:3794279


Genotype
MGI:3794281
hm1
Allelic
Composition
Pmp22Tr-J/Pmp22Tr-J
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pmp22Tr-J mutation (2 available); any Pmp22 mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most mice die by day 18 (J:7945)
• most mice die by day 18 (J:7945)
• most mice die by day 18 (J:7945)
• most mice die by day 18 (J:7945)

behavior/neurological
• mice are noticeably disabled at day 8 and progressively worsen such that they have a difficult time walking (J:7945)
• mice are noticeably disabled at day 8 and progressively worsen such that they have a difficult time walking (J:7945)




Genotype
MGI:3794294
ht2
Allelic
Composition
Pmp22Tr-J/Pmp22+
Genetic
Background
B6.Cg-Pmp22Tr-J Krt25Re/+ +/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pmp22Tr-J mutation (2 available); any Pmp22 mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• at 72 days, mice exhibit severe hypomyelination and the number of myelinated nerves is decreased compared to in wild-type mice (J:101812)
• 'onion bulb' formations are evidence of repetitive cycles of demyelination and remyelination (J:101812)
• at 72 days, mice exhibit severe hypomyelination and the number of myelinated nerves is decreased compared to in wild-type mice (J:101812)
• 'onion bulb' formations are evidence of repetitive cycles of demyelination and remyelination (J:101812)
• at 30 days of age, compound muscle action potential (CMAP) amplitude is reduced 85%, distal motor latency is prolonged 112%, conduction velocity is reduced 81%, and CMAP duration is increased 253% compared to in wild-type mice (J:101812)
• at 72 days of age, CMAP amplitude is reduced 87%, distal motor latency is prolonged 77%, conduction velocity is reduced 72%, and CMAP duration is increased 326% compared to in wild-type mice (J:101812)
• at 30 days of age, compound muscle action potential (CMAP) amplitude is reduced 85%, distal motor latency is prolonged 112%, conduction velocity is reduced 81%, and CMAP duration is increased 253% compared to in wild-type mice (J:101812)
• at 72 days of age, CMAP amplitude is reduced 87%, distal motor latency is prolonged 77%, conduction velocity is reduced 72%, and CMAP duration is increased 326% compared to in wild-type mice (J:101812)

cellular
• proteosome activity is impaired (J:97015)
• proteosome activity is impaired (J:97015)
• autophagy is induced in neuropathic mouse nerves unlike in wild-type mice (J:119095)
• however, experimentally induced autophagy and or/ chaperones hinders Pmp22 protein aggregation (J:119095)
• autophagy is induced in neuropathic mouse nerves unlike in wild-type mice (J:119095)
• however, experimentally induced autophagy and or/ chaperones hinders Pmp22 protein aggregation (J:119095)

Mouse Models of Human Disease
OMIM ID Ref(s)
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A; CMT1A 118220 J:3394 , J:101812




Genotype
MGI:3794288
ht3
Allelic
Composition
Pmp22Tr-J/Pmp22+
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pmp22Tr-J mutation (2 available); any Pmp22 mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• Schwann cell nuclei numbers are increased (J:39953)
• Schwann cell nuclei numbers are increased (J:39953)
• Shwann cell numbers and rates of apoptosis are increased compared to in wild-type mice (J:134811)
• however, treatment with curcumin decreases apoptosis rates of Schwann cells (J:134811)
• Shwann cell numbers and rates of apoptosis are increased compared to in wild-type mice (J:134811)
• however, treatment with curcumin decreases apoptosis rates of Schwann cells (J:134811)
• treatment with curcumin increases axonal size (J:134811)
• treatment with curcumin increases axonal size (J:134811)
• mice exhibit minor structural changes in dorsal root ganglion cells (J:39953)
• mice exhibit minor structural changes in dorsal root ganglion cells (J:39953)
• 40% to 60% of axons lack myelination (J:39953)
• 40% to 60% of axons lack myelination (J:39953)

behavior/neurological
• mice are unable to remain on a rotarod as long as wild-type mice (J:134811)
• however, treatment with curcumin improves coordination (J:134811)
• mice are unable to remain on a rotarod as long as wild-type mice (J:134811)
• however, treatment with curcumin improves coordination (J:134811)
• beginning at 4 to 6 weeks of age, mice exhibit abnormal gait with hindlimb spaying (J:39953)
• beginning at 4 to 6 weeks of age, mice exhibit abnormal gait with hindlimb spaying (J:39953)

muscle
• mice exhibit muscle wasting (J:39953)
• mice exhibit muscle wasting (J:39953)

Mouse Models of Human Disease
OMIM ID Ref(s)
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A; CMT1A 118220 J:3394 , J:98231




Genotype
MGI:3794279
ot4
Allelic
Composition
Pmp22Tr-J/?
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pmp22Tr-J mutation (2 available); any Pmp22 mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• Schwann cells are delayed or fail to ensheath axons as in wild-type mice (J:7222)
• Schwann cells are delayed or fail to ensheath axons as in wild-type mice (J:7222)
• mice exhibit mild deficiencies in myelin at the sciatic and vagus nerves compared to in wild-type but not as severe as in Pmp22Tr mice (J:7222)
• mice exhibit mild deficiencies in myelin at the sciatic and vagus nerves compared to in wild-type but not as severe as in Pmp22Tr mice (J:7222)

behavior/neurological
• beginning at P20 to P25 (J:7222)
• beginning at P20 to P25 (J:7222)
• mice exhibit milder gait abnormalities than in Pmp22Tr mice (J:7222)
• mice exhibit milder gait abnormalities than in Pmp22Tr mice (J:7222)





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/02/2016
MGI 6.02
The Jackson Laboratory