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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Cmtm5tm1c(KOMP)Wtsi
targeted mutation 1c, Wellcome Trust Sanger Institute
MGI:7330365
Summary 2 genotypes


Genotype
MGI:7331503
cn1
Allelic
Composition
Cmtm5tm1c(KOMP)Wtsi/Cmtm5tm1c(KOMP)Wtsi
Tg(Plp1-cre/ERT2)1Ueli/0
Genetic
Background
B6.Cg-Cmtm5tm1c(KOMP)Wtsi Tg(Plp1-cre/ERT2)1Ueli
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cmtm5tm1c(KOMP)Wtsi mutation (0 available); any Cmtm5 mutation (17 available)
Tg(Plp1-cre/ERT2)1Ueli mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• adults show pathological appearing axons in optic nerves (axonopathy) 4 months after tamoxifen injection




Genotype
MGI:7331498
cn2
Allelic
Composition
Cmtm5tm1c(KOMP)Wtsi/Cmtm5tm1c(KOMP)Wtsi
Cnptm1(cre)Kan/Cnp+
Genetic
Background
B6.Cg-Cnptm1(cre)Kan Cmtm5tm1c(KOMP)Wtsi
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cmtm5tm1c(KOMP)Wtsi mutation (0 available); any Cmtm5 mutation (17 available)
Cnptm1(cre)Kan mutation (0 available); any Cnp mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• concentration of myo-inositol is increased in the corpus callosi at 8 months of age, indicating gliosis
• late-onset astrogliosis
• mice show early-onset progressive axonopathy, with optic nerves showing pathological axonal profiles already at P30 and their number progressively increasing
• mice show a trend toward reduced axon density is seen at P30 and P75 which reaches significance at 12 months of age and leads to axonal loss
• dorsal white matter in spinal cords shows axonopathy in 12-month-old mice
• however, mice show normal axonal diameters in the optic nerves
• number of myelin whorls (multilamellar structures that display the periodicity of CNS myelin devoid of a discernible axon; i.e. remnants of degenerating myelinated fibers with relative sparing of myelin membranes) is increased in optic nerves of 12-month-old mice, indicating axonal degeneration but not myelin pathology
• however, mice show normal myelin biogenesis and composition and numbers of myelin outfoldings, normal myelin sheath thickness, unchanged inner-tongue inclusions and axoplasmic inclusions, and normal mature oligodendrocytes

vision/eye
• visually evoked potential amplitudes are reduced indicating that transmission of signals via the optic nerves to the visual cortex is impaired
• however, mice show sizeable visually evoked potentials with normal thresholds and latency, indicating normal speed of action potential propagation
• electroretinography shows normal ERG waveforms, thresholds, and amplitudes of a- and b-waves at 8.5 months of age indicating normal retinal function

hematopoietic system
• concentration of myo-inositol is increased in the corpus callosi at 8 months of age, indicating gliosis

immune system
• concentration of myo-inositol is increased in the corpus callosi at 8 months of age, indicating gliosis

behavior/neurological
N
• mice show no obvious behavioral phenotype





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
05/07/2024
MGI 6.23
The Jackson Laboratory