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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Mpztm1Msch
targeted mutation 1, Melitta Schachner
MGI:2384133
Summary 17 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Mpztm1Msch/Mpztm1Msch involves: 129S7/SvEvBrd MGI:3576602
ht2
Mpztm1Msch/Mpz+ B6.129S7-Mpztm1Msch MGI:4947956
ht3
Mpztm1Msch/Mpz+ involves: 129S7/SvEvBrd MGI:3576605
ht4
Mpztm1Msch/Mpz+ involves: 129S7/SvEvBrd * C57BL/6 MGI:3576603
cx5
Mpztm1Msch/Mpz+
Rag1tm1Mom/Rag1tm1Mom
B6.129S7-Mpztm1Msch Rag1tm1Mom MGI:4947955
cx6
Mpztm1Msch/Mpz+
Tg(Mpz)88.1Mfel/0
FVB.Cg-Mpztm1Msch Tg(Mpz)88.1Mfel MGI:6277899
cx7
Mpztm1Msch/Mpztm1Msch
Tg(Mpz)88.4Mfel/0
FVB.Cg-Mpztm1Msch Tg(Mpz)88.4Mfel MGI:6277904
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/Ccl2tm1Rol
Mpztm1Msch/Mpz+
involves: 129S4/SvJae * 129S7/SvEvBrd MGI:4418725
cx11
Ccl2tm1Rol/Ccl2+
Mpztm1Msch/Mpz+
involves: 129S4/SvJae * 129S7/SvEvBrd MGI:4418726
cx12
Csf1op/Csf1op
Mpztm1Msch/Mpz+
involves: 129S7/SvEvBrd * C57BL/6 MGI:3576604
cx13
Mpztm1Msch/Mpztm1Msch
Tg(Mpz*S63X)31Mes/0
involves: 129S7/SvEvBrd * FVB/N MGI:6276578
cx14
Mpztm1Msch/Mpztm1Msch
Tg(Mpz*S63C)33Mes/0
involves: 129S7/SvEvBrd * FVB/N MGI:6276581
cx15
Mpztm1Msch/Mpz+
Tg(Mpz*S63C)33Mes/0
involves: 129S7/SvEvBrd * FVB/N MGI:6277082
cx16
Mpztm1Msch/Mpztm1Msch
Tg(Mpz)80.4Wra/0
involves: 129S7/SvEvBrd * FVB/N MGI:2653555
cx17
Mpztm1Msch/Mpz+
Tg(Mpz*S63X)31Mes/0
involves: 129S7/SvEvBrd * FVB/N MGI:6276577


Genotype
MGI:3576602
hm1
Allelic
Composition
Mpztm1Msch/Mpztm1Msch
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
• make fewer turns around axons and otherwise showing varying degrees of abnormal development and degeneration
• schwann cells formed little compacted myelin and that was abnormal
• at 1 year of age, conduction velocities in the sciatic nerve were reduced, temporal dispersion slowed, polyphasia, increased latencies

behavior/neurological
• after 2 weeks of age, body showed weak vibrations when lifted by the tail
• by 4 weeks of age clasping of the hindlimbs when lifted by the tail
• becoming more pronounced with age, sometimes leading to convulsions
• weak forelimbs and hindlimbs in adults
• becoming more pronounced with age
• uncoordinated
• dragging or jerky movements of hindlimbs




Genotype
MGI:4947956
ht2
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
• around the quadriceps femoral nerves at 13 months of age
• pathological lesions indicative of compromised myelin maintenance are seen in the quadriceps femoral nerves at 13 months of age
• thin myelin sheaths in the quadriceps femoral nerves at 13 months of age
• 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
• myelin degeneration in the quadriceps femoral nerves at 13 months of age
• impaired conduction with prolonged latencies of M-responses and of F waves after distal or proximal stimulations

immune system
• increase in the frequency of myelin reactive splenocytes




Genotype
MGI:3576605
ht3
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
• at 12 months, mice exhibit severe demyelinating neuropathy unlike wild-type mice
• myelin sheaths normal until around 4 weeks of age
• by 4 months of age, myelin sheaths are abnormally thin
• at 12 months
• mice exhibit hypomyelination
• 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
• 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
• 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
ht4
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
• increased infiltration of macrophages into motor nerves
• often found in the endoneurium
• increased numbers of mononuclear cells found in the sciatic nerve
• elevated Th1 autoimmune response to Mpz
• marginally increased production of interferon gamma

behavior/neurological
• waddling gait develops by about 5 months of age
• more prone to experimentally induced paralysis

hematopoietic system
• increased infiltration of macrophages into motor nerves
• often found in the endoneurium
• increased numbers of mononuclear cells found in the sciatic nerve
• elevated Th1 autoimmune response to Mpz

cellular
• 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
cx5
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 (49 available); any Rag1 mutation (123 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 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
• 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
• 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
• 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
• 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




Genotype
MGI:6277899
cx6
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:6277904
cx7
Allelic
Composition
Mpztm1Msch/Mpztm1Msch
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
• abnormal compaction is not improved
• two types of abnormally compacted fibers are seen: rare fibers in which both the intraperiod and major dense line are absent and majority of fibers with myelin that appears compacted but has abnormal periodicity due to a wide (but not absent) intraperiod line
• myelin sheaths are thinner
• tomacular are readily seen at P28
• tomacula are not improved and are worsened
• hypomyelination is only slightly improved




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
• myelin sheaths are thinner
• myelin lamellae are widened
• however, mice show improved hypomyelination
• 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 (101 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 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
• 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
• 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
• fewer macrophages are found in quadriceps nerves compared to mutant mice heterozygous for the Tcra null allele
• 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
• reduction is less severe than in mutant mice heterozygous for the Tcra null allele

immune system
• absence of mature alpha beta lymphocytes

hematopoietic system
• absence of mature alpha beta lymphocytes




Genotype
MGI:4418725
cx10
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 (25 available)
Mpztm1Msch mutation (0 available); any Mpz mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• at 6 and 12 months, the number of macrophages in the quadriceps nerve is decreased compared to in Mpztm1Msch heterozygotes
• at 12 months, the number of macrophages in the quadriceps nerve is increased 2.5-fold compared to in wild-type
• levels of M-CSF are increased compared to in Ccl2tm1Rol/Ccl2+ Mpztm1Msch/Mpz+ mice

nervous system
• at 12 months, mice exhibit severe demyelinating neuropathy unlike wild-type mice that is more severe than in Mpztm1Msch heterozygotes
• at 12 months

homeostasis/metabolism
• levels of M-CSF are increased compared to in Ccl2tm1Rol/Ccl2+ Mpztm1Msch/Mpz+ mice

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




Genotype
MGI:4418726
cx11
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 (25 available)
Mpztm1Msch mutation (0 available); any Mpz mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 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
• at 12 months but not as severe as in Mpztm1Msch heterozygotes or Ccl2tm1Rol/Ccl2+ Mpztm1Msch/Mpz+ mice

immune system
• at 12 months, the number of foam macrophages in the quadriceps nerve is decreased compared to in Ccl2tm1Rol/Ccl2tm1Rol Mpztm1Msch/Mpz+ mice
• 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
• at 12 months, the number of foam macrophages in the quadriceps nerve is decreased compared to in Ccl2tm1Rol/Ccl2tm1Rol Mpztm1Msch/Mpz+ mice
• 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
• at 12 months, the number of foam macrophages in the quadriceps nerve is decreased compared to in Ccl2tm1Rol/Ccl2tm1Rol Mpztm1Msch/Mpz+ mice




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 (48 available)
Mpztm1Msch mutation (0 available); any Mpz mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 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
N
• macrophage infiltration of motor nerves does not occur




Genotype
MGI:6276578
cx13
Allelic
Composition
Mpztm1Msch/Mpztm1Msch
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
nervous system
• myelin is uncompacted




Genotype
MGI:6276581
cx14
Allelic
Composition
Mpztm1Msch/Mpztm1Msch
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
• mice exhibit compacted sheaths with a regular periodic structure like wild-type mice, however, the periodicity is expanded by 21%; majority of this increase derives from the extracellular space




Genotype
MGI:6277082
cx15
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
• 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
• total myelin diffraction is reduced by about half, indicative of both hypomyelination and demyelination
• total myelin diffraction is reduced by about half, indicative of both hypomyelination and demyelination




Genotype
MGI:2653555
cx16
Allelic
Composition
Mpztm1Msch/Mpztm1Msch
Tg(Mpz)80.4Wra/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)80.4Wra mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• normal myelination




Genotype
MGI:6276577
cx17
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
• mice are able to remain for only half as long on an accelerating rotarod compared to wild-type mice

nervous system
• sciatic and digital nerves show thin myelin sheaths, more pronounced distally in digital nerves and progressing with age
• occasional axonal degeneration in digital nerves
• sciatic and digital nerves show onion bulbs and thin myelin sheaths, all more pronounced distally in digital nerves, and progressing with age
• 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
• 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





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory