Vanishing White Matter

Vanishing White Matter

VWM is a fatal leukodystrophy for which treatments are currently lacking. The disease is caused by recessive mutations in the five genes encoding the protein complex eukaryotic translation initiation factor 2B (eIF2B). The VWM model mice have homozygous point mutations in Eif2b4 or Eif2b5 and a phenotype that recapitulates human VWM: abnormal motor skills, VWM-related alterations in mRNA expression, and brain pathology.

Eif2b4 / Eif2b5 mouse model

Sylics offers unique services with an Eif2b4 / Eif2b5 mouse model of vanishing white matter (VWM) disease through a collaboration with the Amsterdam Leukodystrophy Center at Amsterdam UMC. Sylics has contributed to the characterization of this mouse model, developed by our academic collaborators (Dooves et al, 2016). Proof of concept intervention studies in this model have identified clear therapeutic targets (Abbink et al, 2019).

Clinically relevant phenotypes

Well characterized behavioral readouts in VWM mice include automated home-cage-based Spontaneous Behaviour, Catwalk Gait Analysis, and the Beam Latency Test. We also offer RT-qPCR services to detect mRNA transcripts known to be dysregulated in this VWM model (e.g. ATF4). Histological or western blot readouts that Sylics offers for the VWM model include markers for myelin deficiency and abnormal glial phenotypes.

Please reach out to us if you want to learn more about using this model for drug development projects.