Phenotypes associated with this allele

• Allele Symbol: Cmtm5^{tm1c(KOMP)Wtsi}
• Allele Name: targeted mutation 1c, Wellcome Trust Sanger Institute
• Allele ID: MGI:7330365
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Cmtm5^tm1c(KOMP)Wtsi/Cmtm5^tm1c(KOMP)Wtsi Tg(Plp1-cre/ERT2)1Ueli/0	B6.Cg-Cmtm5^tm1c(KOMP)Wtsi Tg(Plp1-cre/ERT2)1Ueli	MGI:7331503
cn2	Cmtm5^tm1c(KOMP)Wtsi/Cmtm5^tm1c(KOMP)Wtsi Cnp^tm1(cre)Kan/Cnp^+	B6.Cg-Cnp^tm1(cre)Kan Cmtm5^tm1c(KOMP)Wtsi	MGI:7331498

Genotype
MGI:7331503

cn1

• Allelic Composition: Cmtm5^{tm1c(KOMP)Wtsi}/Cmtm5^{tm1c(KOMP)Wtsi}; Tg(Plp1-cre/ERT2)1Ueli/0
• Genetic Background: B6.Cg-Cmtm5^{tm1c(KOMP)Wtsi} Tg(Plp1-cre/ERT2)1Ueli

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

nervous system

abnormal axon morphology ( J:327261 )

• adults show pathological appearing axons in optic nerves (axonopathy) 4 months after tamoxifen injection

Genotype
MGI:7331498

cn2

• Allelic Composition: Cmtm5^{tm1c(KOMP)Wtsi}/Cmtm5^{tm1c(KOMP)Wtsi}; Cnp^tm1(cre)Kan/Cnp⁺
• Genetic Background: B6.Cg-Cnp^tm1(cre)Kan Cmtm5^{tm1c(KOMP)Wtsi}

nervous system

microgliosis ( J:327261 )

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

astrocytosis ( J:327261 )

• late-onset astrogliosis

abnormal axon morphology ( J:327261 )

• 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

axon degeneration ( J:327261 )

• 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

abnormal visual evoked potential ( J:327261 )

• 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

microgliosis ( J:327261 )

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

immune system

microgliosis ( J:327261 )

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

behavior/neurological

behavior/neurological phenotype ( J:327261 )

N • mice show no obvious behavioral phenotype