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Genome mapping in 4 pet Weimaraner dogs affected by spinal dysraphism—a spinal cord disorder characterized by impaired motor coordination or partial paralysis in the legs, abnormal gait, a crouched stance, and abnormal leg reflexes—uncovered a mutation in a gene called NKX2-8, a “homeobox” gene known to be involved with regulating patterns of anatomical development in the embryo (Safra N et al. PLoS Genet. 2013;9:e1003646).
Previous studies showed that the protein encoded by the mouse counterpart to the NKX2-8 gene plays an essential role in the development of distinct neuronal populations in the hindbrain and ventral spinal cord.
Hampton T. Gene Mutations Implicated in Some Neural Tube Defect Cases. JAMA. 2013;310(9):894. doi:10.1001/jama.2013.277036
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