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Diagnosis | Deleterious mutation resulting in seizures

Lab Animal volume 38, pages 82–83 (2009)Cite this article

Our initial hypothesis was that the condition resulted from a spontaneous dominant mutation accidentally brought in by a founder animal when the colony was moved to our institution in 2006. We took a rigorous approach in developing a phenotype pedigree to trace individuals with seizures and eliminate them from our breeding stock. We also attempted to determine whether seizures were inherited or environmentally caused.

Examination of the problem consisted of four main questions: Is this condition linked to the targeted deletion of Nhlh2 in this line of mice? Is it correlated with gender or age at onset? Could there be an environmental or infectious cause? Is this condition heritable?

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Figure 2: Pedigree analysis of affected line.

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Acknowledgements

This work was supported by a grant from the National Institutes of Health (DK 59903) to D.J.G. We thank Joanna Jacob for excellent technical support, and the animal care staff at the Central Vivarium Facility at Virginia Tech (David Gemmell, Velma Thompson, Ben Arnold, Julie Shay, Pam Suroski and Diana Wilson).

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Diagnosis | Deleterious mutation resulting in seizures. Lab Anim 38, 82–83 (2009). https://doi.org/10.1038/laban0309-82

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