All Phenotypes Pmp22<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Pmp22⁺
wild type
MGI:2153457

Summary

11 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Pmp22^Tr-J/Pmp22⁺	B6.Cg-Pmp22^Tr-J Krt25^Re/+ +/J	MGI:3794294
ht2	Pmp22^Tr-2J/Pmp22⁺	C57BL/6J-Pmp22^Tr-2J/GrsrJ	MGI:5515892
ht3	Pmp22^Tr-Ncnp/Pmp22⁺	GAD/Ncnp-Pmp22^Tr-Ncnp	MGI:3794531
ht4	Pmp22^tm1Ueli/Pmp22⁺	involves: 129S/SvEv	MGI:3794448
ht5	Pmp22^Tr-3H/Pmp22⁺	involves: BALB/c * C3H/HeH	MGI:3794519
ht6	Pmp22^Tr-2H/Pmp22⁺	involves: BALB/cAnNCrl * C3H/HeN	MGI:3794520
ht7	Pmp22^Tr-1H/Pmp22⁺	involves: BALB/cAnNCrl * C3H/HeN	MGI:3794521
ht8	Pmp22^Tr-J/Pmp22⁺	involves: C57BL/6	MGI:3794288
ht9	Pmp22^M1247Lja/Pmp22⁺	involves: C57BL/6J * DBA	MGI:5427471
ht10	Pmp22^tm1Lnot/Pmp22⁺	Not Specified	MGI:3625035
ht11	Pmp22^Tr/Pmp22⁺	Not Specified	MGI:3640132

Allelic Composition	Pmp22^Tr-J/Pmp22⁺
Genetic Background	B6.Cg-Pmp22^Tr-J Krt25^Re/+ +/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pmp22^Tr-J mutation (2 available); any Pmp22 mutation (32 available)

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

nervous system

demyelination ( J:101812 )

• at 72 days, mice exhibit severe hypomyelination and the number of myelinated nerves is decreased compared to in wild-type mice

• 'onion bulb' formations are evidence of repetitive cycles of demyelination and remyelination

abnormal action potential ( 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

• 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

cellular

abnormal cell physiology ( J:97015 )

• proteosome activity is impaired

abnormal autophagy ( J:119095 )

• autophagy is induced in neuropathic mouse nerves unlike in wild-type mice

• however, experimentally induced autophagy and or/ chaperones hinders Pmp22 protein aggregation

homeostasis/metabolism

abnormal autophagy ( J:119095 )

• autophagy is induced in neuropathic mouse nerves unlike in wild-type mice

• however, experimentally induced autophagy and or/ chaperones hinders Pmp22 protein aggregation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease type 1A		DOID:0110148	OMIM:118220	J:3394 , J:101812

Allelic Composition	Pmp22^Tr-2J/Pmp22⁺
Genetic Background	C57BL/6J-Pmp22^Tr-2J/GrsrJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pmp22^Tr-2J mutation (1 available); any Pmp22 mutation (32 available)

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

behavior/neurological

tremors ( J:201866 )

• rapid tremor with an onset of approximately 3 weeks of age

ataxia ( J:201866 )

• reduced ability to organize the hind limb movements results in a wobbly, unsteady gait

abnormal gait ( J:201866 )

• unsteady, wobbly gait

spasticity ( J:201866 )

• spasticity in the muscles of the lower back and limbs

nervous system

demyelination ( J:201866 )

• assessment at 5 weeks of age shows severe myelin deficiency in the peripheral nerves and at 16 weeks of age peripheral nerves show hypertrophy and very little myelin

reproductive system

reduced male fertility ( J:201866 )

• only two of six heterozygous males reproduced

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:201866 )

• three of seven heterozgyotes assessed before 45 days of age show elevated auditory brainstem response

impaired hearing ( J:201866 )

• partial hearing impairment found by elevated ABR thresholds in three of seven heterozygotes

deafness ( J:201866 )

• complete deafness in one of seven heterozygotes assessed by ABR

limbs/digits/tail

limbs/digits/tail phenotype ( J:201866 )

N	• no indication of pes cavovarus

mortality/aging

mortality/aging ( J:201866 )

N	• no premature death noted

vision/eye

vision/eye phenotype ( J:201866 )

N	• three heterozygotes displayed no abnormalities by ophthalmoscopy

Mouse Models of Human Disease	DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease type 1A	DOID:0110148	OMIM:118220	J:201866
Charcot-Marie-Tooth disease type 1E	DOID:0110153	OMIM:118300	J:201866
Charcot-Marie-Tooth disease type 3	DOID:0050540	OMIM:145900	J:201866
hereditary neuropathy with liability to pressure palsies	DOID:0060843	OMIM:162500	J:201866

Allelic Composition	Pmp22^Tr-Ncnp/Pmp22⁺
Genetic Background	GAD/Ncnp-Pmp22^Tr-Ncnp

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pmp22^Tr-Ncnp mutation (0 available); any Pmp22 mutation (32 available)

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

nervous system

demyelination ( J:43874 )

• peripheral nerves in the hind- and forelimbs are hypomyelination

behavior/neurological

abnormal gait ( J:43874 )

• gait abnormalities progress slightly with age

Allelic Composition	Pmp22^tm1Ueli/Pmp22⁺
Genetic Background	involves: 129S/SvEv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pmp22^tm1Ueli mutation (0 available); any Pmp22 mutation (32 available)

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

nervous system

abnormal axon morphology ( J:29517 )

abnormal myelin sheath morphology ( J:29517 )

• at day 24, mice exhibit rare tomacula that are less prominent than in homozygotes

abnormal myelination ( J:29517 )

• at day 24, mice exhibit rare tomacula that are less prominent than in homozygotes

behavior/neurological

abnormal motor coordination/balance ( J:29517 )

• mice sporadically exhibit walking defects similar to in homozygotes

Allelic Composition	Pmp22^Tr-3H/Pmp22⁺
Genetic Background	involves: BALB/c * C3H/HeH

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pmp22^Tr-3H mutation (2 available); any Pmp22 mutation (32 available)

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

behavior/neurological

tremors ( J:79382 )

• mice exhibit resting tremors beginning at 3 weeks of age

abnormal motor coordination/balance ( J:79382 )

• impaired motor function is less severe than in Pmp22^Tr-1H or Pmp22^Tr-2H heterozygotes

impaired righting response ( J:79382 )

impaired coordination ( J:79382 )

• when suspended by their tails mice exhibit repeated extension and flexion of their hindlimbs unlike wild-type mice

• in a hanging wire test mice fail to grasp with hindlimbs and fall unlike wild-type mice

decreased grip strength ( J:79382 )

abnormal gait ( J:79382 )

decreased locomotor activity ( J:79382 )

nervous system

abnormal Schwann cell morphology ( J:79382 )

• Schwann cell numbers are increased compared to in wild-type mice but not as severely as in Pmp22^Tr-1H or Pmp22^Tr-2H heterozygotes

axon degeneration ( J:79382 )

• mice exhibit axonal atrophy

demyelination ( J:79382 )

cellular

abnormal Schwann cell morphology ( J:79382 )

• Schwann cell numbers are increased compared to in wild-type mice but not as severely as in Pmp22^Tr-1H or Pmp22^Tr-2H heterozygotes

Allelic Composition	Pmp22^Tr-2H/Pmp22⁺
Genetic Background	involves: BALB/cAnNCrl * C3H/HeN

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pmp22^Tr-2H mutation (2 available); any Pmp22 mutation (32 available)

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

behavior/neurological

tremors ( J:79382 )

• in some mice

abnormal motor coordination/balance ( J:79382 )

• impaired motor function is more severe than in Pmp22^Tr-3H but less severe than in Pmp22^Tr-1H heterozygotes

impaired righting response ( J:79382 )

decreased grip strength ( J:79382 )

• reduced

abnormal gait ( J:79382 )

decreased locomotor activity ( J:79382 )

nervous system

abnormal Schwann cell morphology ( J:79382 )

• Schwann cell numbers are increased compared to in wild-type mice and Pmp22^Tr-3H heterozygotes

axon degeneration ( J:79382 )

• mice exhibit axonal atrophy

demyelination ( J:63816 , J:79382 )

cellular

abnormal Schwann cell morphology ( J:79382 )

• Schwann cell numbers are increased compared to in wild-type mice and Pmp22^Tr-3H heterozygotes

Allelic Composition	Pmp22^Tr-1H/Pmp22⁺
Genetic Background	involves: BALB/cAnNCrl * C3H/HeN

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pmp22^Tr-1H mutation (2 available); any Pmp22 mutation (32 available)

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

behavior/neurological

tremors ( J:79382 )

• in some mice

abnormal motor coordination/balance ( J:79382 )

• impaired motor function is more severe than in Pmp22^Tr-3H or Pmp22^Tr-2H heterozygotes

impaired righting response ( J:79382 )

decreased grip strength ( J:79382 )

• reduced

abnormal gait ( J:79382 )

decreased locomotor activity ( J:79382 )

nervous system

abnormal Schwann cell morphology ( J:79382 )

• Schwann cell numbers are increased compared to in wild-type mice and Pmp22^Tr-3H heterozygotes

axon degeneration ( J:79382 )

• mice exhibit axonal atrophy

demyelination ( J:63816 , J:79382 )

cellular

abnormal Schwann cell morphology ( J:79382 )

• Schwann cell numbers are increased compared to in wild-type mice and Pmp22^Tr-3H heterozygotes

Allelic Composition	Pmp22^Tr-J/Pmp22⁺
Genetic Background	involves: C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pmp22^Tr-J mutation (2 available); any Pmp22 mutation (32 available)

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

nervous system

abnormal Schwann cell morphology ( J:134811 , 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)

• Schwann cell nuclei numbers are increased (J:39953)

abnormal axon morphology ( J:134811 )

• treatment with curcumin increases axonal size

abnormal dorsal root ganglion morphology ( J:39953 )

• mice exhibit minor structural changes in dorsal root ganglion cells

abnormal myelination ( J:98231 , J:39953 )

• 40% to 60% of axons lack myelination (J:39953)

behavior/neurological

impaired coordination ( J:134811 )

• mice are unable to remain on a rotarod as long as wild-type mice

• however, treatment with curcumin improves coordination

abnormal gait ( J:39953 )

• beginning at 4 to 6 weeks of age, mice exhibit abnormal gait with hindlimb spaying

muscle

muscle degeneration ( J:39953 )

• mice exhibit muscle wasting

cellular

abnormal Schwann cell morphology ( J:134811 , 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)

• Schwann cell nuclei numbers are increased (J:39953)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease type 1A		DOID:0110148	OMIM:118220	J:3394 , J:98231

Allelic Composition	Pmp22^M1247Lja/Pmp22⁺
Genetic Background	involves: C57BL/6J * DBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pmp22^M1247Lja mutation (0 available); any Pmp22 mutation (32 available)

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

behavior/neurological

tremors ( J:179895 )

Allelic Composition	Pmp22^tm1Lnot/Pmp22⁺
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pmp22^tm1Lnot mutation (0 available); any Pmp22 mutation (32 available)

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

nervous system

abnormal myelin sheath morphology ( J:104989 )

• tomacula, sausage-like myelin thickenings, are seen on the sciatic nerve; however these are less common than in homozygotes

• the frequency of tomacula increases with age

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:104989 )

• motor deficits are seen by 5 months of age, later than in homozygotes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hereditary neuropathy with liability to pressure palsies		DOID:0060843	OMIM:162500	J:104989

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pmp22^Tr mutation (0 available); any Pmp22 mutation (32 available)

♀	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

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