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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Mpz+
wild type
MGI:2433067
Summary 14 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
 		Mpztm1Msch/Mpz+ B6.129S7-Mpztm1Msch MGI:4947956
ht2
 		Mpztm3.1Wra/Mpz+ FVB.129S2(Cg)-Mpztm3.1Wra MGI:6191699
ht3
 		Mpztm1.1Wra/Mpz+ FVB.129S2-Mpztm1.1Wra MGI:6273176
ht4
 		Mpztm1Msch/Mpz+ involves: 129S7/SvEvBrd MGI:3576605
ht5
 		Mpztm1Msch/Mpz+ involves: 129S7/SvEvBrd * C57BL/6 MGI:3576603
cx6
 		Mpztm1Msch/Mpz+
Rag1tm1Mom/Rag1tm1Mom 		B6.129S7-Mpztm1Msch Rag1tm1Mom MGI:4947955
cx7
 		Mpztm1Msch/Mpz+
Tg(Mpz)88.1Mfel/0 		FVB.Cg-Mpztm1Msch Tg(Mpz)88.1Mfel MGI:6277899
cx8
 		Mpztm1Msch/Mpz+
Tg(Mpz)88.4Mfel/0 		FVB.Cg-Mpztm1Msch Tg(Mpz)88.4Mfel MGI:6277901
cx9
 		Mpztm1Msch/Mpz+
Tcratm1Mjo/Tcratm1Mjo 		involves: 129P2/OlaHsd * 129S7/SvEvBrd * BALB/c * C57BL/6 MGI:4947953
cx10
 		Ccl2tm1Rol/Ccl2+
Mpztm1Msch/Mpz+ 		involves: 129S4/SvJae * 129S7/SvEvBrd MGI:4418726
cx11
 		Ccl2tm1Rol/Ccl2tm1Rol
Mpztm1Msch/Mpz+ 		involves: 129S4/SvJae * 129S7/SvEvBrd MGI:4418725
cx12
 		Csf1op/Csf1op
Mpztm1Msch/Mpz+ 		involves: 129S7/SvEvBrd * C57BL/6 MGI:3576604
cx13
 		Mpztm1Msch/Mpz+
Tg(Mpz*S63X)31Mes/0 		involves: 129S7/SvEvBrd * FVB/N MGI:6276577
cx14
 		Mpztm1Msch/Mpz+
Tg(Mpz*S63C)33Mes/0 		involves: 129S7/SvEvBrd * FVB/N MGI:6277082


Genotype
MGI:4947956
ht1
Allelic
Composition		 Mpztm1Msch/Mpz+
Genetic
Background		 B6.129S7-Mpztm1Msch
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mpztm1Msch mutation (0 available); any Mpz mutation (28 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
increased Schwann cell number ( J:59319 )
• around the quadriceps femoral nerves at 13 months of age
abnormal neuron morphology ( J:59319 )
• pathological lesions indicative of compromised myelin maintenance are seen in the quadriceps femoral nerves at 13 months of age
abnormal myelin sheath morphology ( J:59319 )
• thin myelin sheaths in the quadriceps femoral nerves at 13 months of age
abnormal nervous system physiology ( J:59319 )
• increase in the number of macrophages and a tendency for increased numbers of CD8+ cells in nerves at 6 months of age and older
• the CD8+ cell distribution is very heterogeneous
abnormal myelination ( J:59319 )
• myelin degeneration in the quadriceps femoral nerves at 13 months of age
abnormal nerve conduction ( J:59319 )
• impaired conduction with prolonged latencies of M-responses and of F waves after distal or proximal stimulations

immune system
autoimmune response ( J:59319 )
• increase in the frequency of myelin reactive splenocytes

cellular
increased Schwann cell number ( J:59319 )
• around the quadriceps femoral nerves at 13 months of age




Genotype
MGI:6191699
ht2
Allelic
Composition		 Mpztm3.1Wra/Mpz+
Genetic
Background		 FVB.129S2(Cg)-Mpztm3.1Wra
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mpztm3.1Wra mutation (0 available); any Mpz mutation (28 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological
impaired coordination ( J:241742 )
• mice perform worse than wild-type mice on the rotating rod

cellular
abnormal Schwann cell morphology ( J:241742 )
• Schwann cell development is delayed
increased Schwann cell proliferation ( J:241742 )
• Schwann cell proliferation is increased in sciatic nerves
• however, no differences in Schwann cell apoptosis are seen

nervous system
abnormal Schwann cell morphology ( J:241742 )
• Schwann cell development is delayed
increased Schwann cell proliferation ( J:241742 )
• Schwann cell proliferation is increased in sciatic nerves
• however, no differences in Schwann cell apoptosis are seen
abnormal myelin sheath morphology ( J:241742 )
• about 1% increase in sciatic nerve myelin period
• however, optic nerve myelin period is normal
• sciatic nerve segments have a coherence length of myelin reduced by about 30% and a period distortion that is about 25% greater, indicating more membrane packing irregularity
decreased myelin sheath thickness ( J:241742 )
• sciatic nerves show thinner myelin and an increased average G-ratio of 0.77 compared to 0.67 in wild-type controls at 6 weeks of age
• small diameter axons are less affected than large diameter axons
abnormal sciatic nerve morphology ( J:241742 )
• the number of myelinated axons is reduced in sciatic nerves
abnormal action potential ( J:241742 )
• evoked compound muscle action potential amplitudes are reduced but to a lesser extent than in homozygotes
decreased nerve conduction velocity ( J:241742 )
• mice have slowed nerve conduction velocities at 6-8 weeks of age

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
Charcot-Marie-Tooth disease type 1B DOID:0110152 OMIM:118200
 J:241742




Genotype
MGI:6273176
ht3
Allelic
Composition		 Mpztm1.1Wra/Mpz+
Genetic
Background		 FVB.129S2-Mpztm1.1Wra
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mpztm1.1Wra mutation (0 available); any Mpz mutation (28 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological
impaired coordination ( J:267903 )
• P10-P12 mice show a reduction in motor coordination on the rotarod, however this defect is no longer present in adult P28 mice
• P10-P12 mice show a higher number of errors on the grid walking test, however this defect is no longer present in adult P28 mice

nervous system
abnormal axon radial sorting ( J:267903 )
• mice show an increase of bundles of unsorted mixed caliber axons in nerves at P11 that are not seen in wild-type nerves, however by P14, the radial sorting defect is no longer visible, indicating a delay in myelination
dysmyelination ( J:267903 )
• P28 sciatic nerves show a mild hypomyelination

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
neuropathy DOID:870 J:267903




Genotype
MGI:3576605
ht4
Allelic
Composition		 Mpztm1Msch/Mpz+
Genetic
Background		 involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mpztm1Msch mutation (0 available); any Mpz mutation (28 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
neuron degeneration ( J:133028 )
• at 12 months, mice exhibit severe demyelinating neuropathy unlike wild-type mice
abnormal myelination ( J:42838 )
• myelin sheaths normal until around 4 weeks of age
• by 4 months of age, myelin sheaths are abnormally thin
demyelination ( J:133028 )
• at 12 months
dysmyelination ( J:267903 )
• mice exhibit hypomyelination
abnormal nerve conduction ( J:42838 )
• divergence from controls does not begin until around 5-7 months of age
• conduction velocities in the sciatic nerve were reduced, temporal dispersion slowed, polyphasia, increased latencies

immune system
increased macrophage cell number ( J:133028 )
• at 6 months, the number of macrophages in the quadriceps nerve is doubled compared to in wild-type mice
• at 12 months, the number of macrophages in the quadriceps nerve is increased 3- to 4-fold compared to in wild-type mice
• however, the number of macrophages in the saphenous nerve is normal

hematopoietic system
increased macrophage cell number ( J:133028 )
• at 6 months, the number of macrophages in the quadriceps nerve is doubled compared to in wild-type mice
• at 12 months, the number of macrophages in the quadriceps nerve is increased 3- to 4-fold compared to in wild-type mice
• however, the number of macrophages in the saphenous nerve is normal

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
Charcot-Marie-Tooth disease type 1B DOID:0110152 OMIM:118200
 J:42838




Genotype
MGI:3576603
ht5
Allelic
Composition		 Mpztm1Msch/Mpz+
Genetic
Background		 involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mpztm1Msch mutation (0 available); any Mpz mutation (28 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
abnormal macrophage chemotaxis ( J:67581 )
• increased infiltration of macrophages into motor nerves
• often found in the endoneurium
increased monocyte cell number ( J:82432 )
• increased numbers of mononuclear cells found in the sciatic nerve
abnormal T-helper 1 physiology ( J:82432 )
• elevated Th1 autoimmune response to Mpz
abnormal cytokine secretion ( J:82432 )
• marginally increased production of interferon gamma

behavior/neurological
abnormal gait ( J:82432 )
• waddling gait develops by about 5 months of age
paralysis ( J:82432 )
• more prone to experimentally induced paralysis

hematopoietic system
abnormal macrophage chemotaxis ( J:67581 )
• increased infiltration of macrophages into motor nerves
• often found in the endoneurium
increased monocyte cell number ( J:82432 )
• increased numbers of mononuclear cells found in the sciatic nerve
abnormal T-helper 1 physiology ( J:82432 )
• elevated Th1 autoimmune response to Mpz

cellular
abnormal macrophage chemotaxis ( J:67581 )
• increased infiltration of macrophages into motor nerves
• often found in the endoneurium

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
PCWH syndrome DOID:0090111 OMIM:609136
 J:82432




Genotype
MGI:4947955
cx6
Allelic
Composition		 Mpztm1Msch/Mpz+
Rag1tm1Mom/Rag1tm1Mom
Genetic
Background		 B6.129S7-Mpztm1Msch Rag1tm1Mom
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mpztm1Msch mutation (0 available); any Mpz mutation (28 available)
Rag1tm1Mom mutation (56 available); any Rag1 mutation (133 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
increased Schwann cell number ( J:59319 )
• increase in the number of Schwann cells around the quadriceps femoral nerves at 13 months of age is less than that in age matched mutant mice heterozygous for the Rag1 null allele
abnormal neuron morphology ( J:59319 )
• pathological lesions indicative of compromised myelin maintenance in the quadriceps femoral nerves at 13 months of age are less severe than those in age matched mutant mice heterozygous for the Rag1 null allele
abnormal myelin sheath morphology ( J:59319 )
• myelin sheaths of quadriceps femoral nerves at 13 months of age are thicker than those in age matched mutant mice heterozygous for the Rag1 null allele
abnormal myelination ( J:59319 )
• myelin degeneration in the quadriceps femoral nerves at 13 months of age is less severe than in age matched mutant mice heterozygous for the Rag1 null allele
abnormal nerve conduction ( J:59319 )
• impaired conduction with prolonged latencies of M-responses and of F waves after distal or proximal stimulations
• impairment is less severe than in mutant mice heterozygous for the Rag1 null allele

immune system

hematopoietic system

cellular
increased Schwann cell number ( J:59319 )
• increase in the number of Schwann cells around the quadriceps femoral nerves at 13 months of age is less than that in age matched mutant mice heterozygous for the Rag1 null allele




Genotype
MGI:6277899
cx7
Allelic
Composition		 Mpztm1Msch/Mpz+
Tg(Mpz)88.1Mfel/0
Genetic
Background		 FVB.Cg-Mpztm1Msch Tg(Mpz)88.1Mfel
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mpztm1Msch mutation (0 available); any Mpz mutation (28 available)
Tg(Mpz)88.1Mfel mutation (0 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system




Genotype
MGI:6277901
cx8
Allelic
Composition		 Mpztm1Msch/Mpz+
Tg(Mpz)88.4Mfel/0
Genetic
Background		 FVB.Cg-Mpztm1Msch Tg(Mpz)88.4Mfel
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mpztm1Msch mutation (0 available); any Mpz mutation (28 available)
Tg(Mpz)88.4Mfel mutation (0 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
decreased myelin sheath thickness ( J:77658 )
• myelin sheaths are thinner
• myelin lamellae are widened
• however, mice show improved hypomyelination
tomacula ( J:77658 )
• mice show tomacula that are not improved




Genotype
MGI:4947953
cx9
Allelic
Composition		 Mpztm1Msch/Mpz+
Tcratm1Mjo/Tcratm1Mjo
Genetic
Background		 involves: 129P2/OlaHsd * 129S7/SvEvBrd * BALB/c * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mpztm1Msch mutation (0 available); any Mpz mutation (28 available)
Tcratm1Mjo mutation (7 available); any Tcra mutation (103 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
increased Schwann cell number ( J:59319 )
• increase in the number of Schwann cells around the quadriceps femoral nerves at 13 months of age is less than that in age matched mutant mice heterozygous for the Tcra null allele
abnormal neuron morphology ( J:59319 )
• pathological lesions indicative of compromised myelin maintenance in the quadriceps femoral nerves at 13 months of age are less severe than those in age matched mutant mice heterozygous for the Tcra null allele
abnormal myelin sheath morphology ( J:59319 )
• myelin sheaths of quadriceps femoral nerves at 13 months of age are thicker than those in age matched mutant mice heterozygous for the Tcra null allele
abnormal nervous system physiology ( J:59319 )
• fewer macrophages are found in quadriceps nerves compared to mutant mice heterozygous for the Tcra null allele
abnormal nerve conduction ( J:59319 )
• impaired conduction with prolonged latencies of M-responses and of F waves after distal or proximal stimulations
• impairment tends to be less severe than in mutant mice heterozygous for the Tcra null allele
decreased nerve conduction velocity ( J:59319 )
• reduction is less severe than in mutant mice heterozygous for the Tcra null allele

immune system
decreased T cell number ( J:59319 )
• absence of mature alpha beta lymphocytes

hematopoietic system
decreased T cell number ( J:59319 )
• absence of mature alpha beta lymphocytes

cellular
increased Schwann cell number ( J:59319 )
• increase in the number of Schwann cells around the quadriceps femoral nerves at 13 months of age is less than that in age matched mutant mice heterozygous for the Tcra null allele




Genotype
MGI:4418726
cx10
Allelic
Composition		 Ccl2tm1Rol/Ccl2+
Mpztm1Msch/Mpz+
Genetic
Background		 involves: 129S4/SvJae * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ccl2tm1Rol mutation (2 available); any Ccl2 mutation (23 available)
Mpztm1Msch mutation (0 available); any Mpz mutation (28 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
neuron degeneration ( J:133028 )
• at 12 months, mice exhibit demyelinating neuropathy unlike wild-type mice that is not as severe as in Mpztm1Msch heterozygotes or Ccl2tm1Rol/Ccl2+ Mpztm1Msch/Mpz+ mice
demyelination ( J:133028 )
• at 12 months but not as severe as in Mpztm1Msch heterozygotes or Ccl2tm1Rol/Ccl2+ Mpztm1Msch/Mpz+ mice

immune system
abnormal macrophage derived foam cell morphology ( J:133028 )
• at 12 months, the number of foam macrophages in the quadriceps nerve is decreased compared to in Ccl2tm1Rol/Ccl2tm1Rol Mpztm1Msch/Mpz+ mice
decreased macrophage cell number ( J:133028 )
• at 6 months, the number of macrophages in the quadriceps nerves is decreased compared to in Mpztm1Msch heterozygotes
• at 12 months, the number of macrophages in the quadriceps nerve is decreased compared to in Mpztm1Msch heterozygotes and Ccl2tm1Rol/Ccl2tm1Rol Mpztm1Msch/Mpz+ mice

hematopoietic system
abnormal macrophage derived foam cell morphology ( J:133028 )
• at 12 months, the number of foam macrophages in the quadriceps nerve is decreased compared to in Ccl2tm1Rol/Ccl2tm1Rol Mpztm1Msch/Mpz+ mice
decreased macrophage cell number ( J:133028 )
• at 6 months, the number of macrophages in the quadriceps nerves is decreased compared to in Mpztm1Msch heterozygotes
• at 12 months, the number of macrophages in the quadriceps nerve is decreased compared to in Mpztm1Msch heterozygotes and Ccl2tm1Rol/Ccl2tm1Rol Mpztm1Msch/Mpz+ mice

cellular
abnormal macrophage derived foam cell morphology ( J:133028 )
• at 12 months, the number of foam macrophages in the quadriceps nerve is decreased compared to in Ccl2tm1Rol/Ccl2tm1Rol Mpztm1Msch/Mpz+ mice




Genotype
MGI:4418725
cx11
Allelic
Composition		 Ccl2tm1Rol/Ccl2tm1Rol
Mpztm1Msch/Mpz+
Genetic
Background		 involves: 129S4/SvJae * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ccl2tm1Rol mutation (2 available); any Ccl2 mutation (23 available)
Mpztm1Msch mutation (0 available); any Mpz mutation (28 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
decreased macrophage cell number ( J:133028 )
• at 6 and 12 months, the number of macrophages in the quadriceps nerve is decreased compared to in Mpztm1Msch heterozygotes
increased macrophage cell number ( J:133028 )
• at 12 months, the number of macrophages in the quadriceps nerve is increased 2.5-fold compared to in wild-type
abnormal cytokine level ( J:133028 )
• levels of M-CSF are increased compared to in Ccl2tm1Rol/Ccl2+ Mpztm1Msch/Mpz+ mice

nervous system
neuron degeneration ( J:133028 )
• at 12 months, mice exhibit severe demyelinating neuropathy unlike wild-type mice that is more severe than in Mpztm1Msch heterozygotes
demyelination ( J:133028 )
• at 12 months

homeostasis/metabolism
abnormal cytokine level ( J:133028 )
• levels of M-CSF are increased compared to in Ccl2tm1Rol/Ccl2+ Mpztm1Msch/Mpz+ mice

hematopoietic system
decreased macrophage cell number ( J:133028 )
• at 6 and 12 months, the number of macrophages in the quadriceps nerve is decreased compared to in Mpztm1Msch heterozygotes
increased macrophage cell number ( J:133028 )
• at 12 months, the number of macrophages in the quadriceps nerve is increased 2.5-fold compared to in wild-type




Genotype
MGI:3576604
cx12
Allelic
Composition		 Csf1op/Csf1op
Mpztm1Msch/Mpz+
Genetic
Background		 involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Csf1op mutation (1 available); any Csf1 mutation (46 available)
Mpztm1Msch mutation (0 available); any Mpz mutation (28 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
abnormal myelination ( J:67581 )
• although demyelination still occurs it is much reduced in the absence of a wild-type Csf1 allele
• myelin sheaths are thicker than in the absence of a wild-type Csf1 allele

immune system
immune system phenotype ( J:67581 )
N
• macrophage infiltration of motor nerves does not occur




Genotype
MGI:6276577
cx13
Allelic
Composition		 Mpztm1Msch/Mpz+
Tg(Mpz*S63X)31Mes/0
Genetic
Background		 involves: 129S7/SvEvBrd * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mpztm1Msch mutation (0 available); any Mpz mutation (28 available)
Tg(Mpz*S63X)31Mes mutation (0 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological
impaired coordination ( J:105751 )
• mice are able to remain for only half as long on an accelerating rotarod compared to wild-type mice

nervous system
decreased myelin sheath thickness ( J:105751 )
• sciatic and digital nerves show thin myelin sheaths, more pronounced distally in digital nerves and progressing with age
axon degeneration ( J:105751 )
• occasional axonal degeneration in digital nerves
demyelination ( J:105751 )
• sciatic and digital nerves show onion bulbs and thin myelin sheaths, all more pronounced distally in digital nerves, and progressing with age
abnormal action potential ( J:105751 )
• compound muscle action potentials recorded from the small foot muscles after supramaximal proximal sciatic nerve stimulation show a trend toward reduced compound muscle action potential amplitude in both facial and sciatic nerves
• compound muscle action potentials show only minor temporal dispersion, indicating uniform changes throughout myelin
decreased nerve conduction velocity ( J:105751 )
• electrophysiological analysis in sciatic nerves shows slowed nerve conduction and prolonged F-wave latency

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
Charcot-Marie-Tooth disease type 1B DOID:0110152 OMIM:118200
 J:105751




Genotype
MGI:6277082
cx14
Allelic
Composition		 Mpztm1Msch/Mpz+
Tg(Mpz*S63C)33Mes/0
Genetic
Background		 involves: 129S7/SvEvBrd * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mpztm1Msch mutation (0 available); any Mpz mutation (28 available)
Tg(Mpz*S63C)33Mes mutation (0 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
abnormal myelin sheath morphology ( J:105751 )
• myelin contains disordered packing of membranes and shows a swollen phase that increases to about 40% of the total by 7 hours in x-ray diffraction analysis
• however, myelin does not show altered period or altered intermembrane distances
demyelination ( J:105751 )
• total myelin diffraction is reduced by about half, indicative of both hypomyelination and demyelination
dysmyelination ( J:105751 )
• total myelin diffraction is reduced by about half, indicative of both hypomyelination and demyelination




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Send questions and comments to User Support. 		last database update
01/06/2026
MGI 6.24 		The Jackson Laboratory