Bod1-flox Mouse

BOD1, or Biorientation Defective 1, is a protein-coding gene. It is crucial for proper chromosome segregation during cell division, regulating phosphorylation of PLK1 substrates by modulating Protein Phosphatase 2A (PP2A) activity in mitosis [2,3,4]. BOD1 is also involved in the regulation of cell survival, fatty acid metabolism, and has been implicated in neural-related functions [5]. Genetic models, like Drosophila and mouse models, have been used to study its functions [2].

In Drosophila, neuron-specific knockdown of BOD1 led to learning deficits and synapse morphology abnormalities, suggesting its role in cognitive function [2]. In mice, BOD1 deficit in Purkinje cells of the cerebellar IV/V lobe attenuated cell excitability and spine density, causing ataxia behaviors. Conversely, BOD1 enrichment in these cells reversed hyperexcitability of CaMKIIα+ neurons in the fastigial nucleus and improved ataxia in L7-Cre; BOD1f/f mice, indicating its role in the cerebellar IV/V lobe-fastigial nucleus circuit related to motor coordination [1].

In conclusion, BOD1 is essential for chromosome segregation, cell survival, and fatty acid metabolism. Through gene-knockout or conditional-knockout mouse models, its role in motor coordination and cognitive function has been revealed. These findings suggest BOD1 could be a potential target for treating ataxia and intellectual disability [1,2,5].