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Loss-of-function mutations in sodium channel Na<sub>v</sub>1.7 cause anosmia
Weiss, Jan,Pyrski, Martina,Jacobi, Eric,Bufe, Bernd,Willnecker, Vivienne,Schick, Bernhard,Zizzari, Philippe,Gossage, Samuel J.,Greer, Charles A.,Leinders-Zufall, Trese,Woods, C. Geoffrey,Wood, John N. Nature Publishing Group, a division of Macmillan P 2011 Nature Vol.472 No.7342
Loss of function of the gene SCN9A, encoding the voltage-gated sodium channel Na<SUB>v</SUB>1.7, causes a congenital inability to experience pain in humans. Here we show that Na<SUB>v</SUB>1.7 is not only necessary for pain sensation but is also an essential requirement for odour perception in both mice and humans. We examined human patients with loss-of-function mutations in SCN9A and show that they are unable to sense odours. To establish the essential role of Na<SUB>v</SUB>1.7 in odour perception, we generated conditional null mice in which Na<SUB>v</SUB>1.7 was removed from all olfactory sensory neurons. In the absence of Na<SUB>v</SUB>1.7, these neurons still produce odour-evoked action potentials but fail to initiate synaptic signalling from their axon terminals at the first synapse in the olfactory system. The mutant mice no longer display vital, odour-guided behaviours such as innate odour recognition and avoidance, short-term odour learning, and maternal pup retrieval. Our study creates a mouse model of congenital general anosmia and provides new strategies to explore the genetic basis of the human sense of smell.