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GBA D409V KI Mouse Model

GBA D409V KI mice have a knockin of the D409V mutation in the murine GBA gene at exon 10, which corresponds to the D409V mutation in the mature human GBA protein and model Gaucher disease. Due to the association of the GBA1 gene to Parkinson‘s disease, the model is also valuable for crossbreeding studies with Parkinson‘s disease mice to model GBA-associated Parkinson’s disease.

The GBA gene is driven by the murine GBA promoter. Mice additionally contain loxP sites flanking exons 6 to 8 of the GBA gene, so it is possible to knockout this gene segment.

Pathological characteristics of GBA D409V KI mice:

GBA D409V KI mice
  • Severely decreased GCase levels in the brain and liver at 4 months
  • Severely increased glucosylsphingosine levels in the brain and liver at 4 months
  • Severely increased α-synuclein levels at 12 months
GBA D409V/+ mice (12 months of age)
  • Highly reduced GCase levels in the hippocampus and cortex
  • Increased activated microglia and astrocytosis levels in the hippocampus
  • Decreased synaptophysin and vAChT levels in the hippocampus
  • Increased CHAT levels in the hippocampus
  • Neither α-synuclein aggregates nor pSer129 α-Synuclein in the hippocampus
  • No motor deficits

Scantox offers a custom-tailored study design for this model and we are flexible to accommodate to your special interest.

We would be happy to test your compounds in the GBA D406V KI mouse model! The most common readouts are:

  • GCase activity
  • Substrate levels e.g. glucosylsphingosine
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