Or5v1, an olfactory receptor gene, is involved in the sense of smell. Olfactory receptors play a crucial role in detecting odorants, which is essential for various biological functions such as foraging, social interactions, and predator avoidance in many organisms. Genetic models can be used to study its functions, potentially revealing its significance in more complex biological pathways and disease conditions.

In a study on Saudi females, multiple variations in Or5v1 were associated with autism spectrum disorder (ASD), suggesting that Or5v1 may contribute to the development of ASD in this population [1]. In an Arab population, a genome-wide association study found that a risk variant in Or5v1 was recessively associated with high triglycerides (TGs), indicating its possible role in lipid-related processes [2]. Also, a genome-wide association on an accelerated aging phenotype identified ten single nucleotide polymorphisms in close proximity to genes including Or5v1, suggesting a link between Or5v1 and factors related to accelerated aging [3]. An association mapping study pointed to an involvement of Or5v1 in inflammatory bowel disease (IBD), though the exact nature of its role was not fully elaborated [4].

In conclusion, Or5v1 is an olfactory receptor gene with potential implications in multiple disease areas including ASD, high TGs, accelerated aging, and IBD. Although no KO/CKO mouse model-based research was presented in the references, these findings hint at its importance in understanding the biological mechanisms underlying these diseases, potentially providing new directions for future research and therapeutic strategies.

References:

1. Almandil, Noor B, Alismail, Maram Adnan, Alsuwat, Hind Saleh, AbdulAzeez, Sayed, Borgio, J Francis. 2023. Exome-wide analysis identify multiple variations in olfactory receptor genes (OR12D2 and OR5V1) associated with autism spectrum disorder in Saudi females. In Frontiers in medicine, 10, 1051039. doi:10.3389/fmed.2023.1051039. https://pubmed.ncbi.nlm.nih.gov/36817779/

2. Hebbar, Prashantha, Nizam, Rasheeba, Melhem, Motasem, Alsmadi, Osama, Thanaraj, Thangavel Alphonse. 2018. Genome-wide association study identifies novel recessive genetic variants for high TGs in an Arab population. In Journal of lipid research, 59, 1951-1966. doi:10.1194/jlr.P080218. https://pubmed.ncbi.nlm.nih.gov/30108155/

3. Le Goallec, Alan, Collin, Sasha, Jabri, M'Hamed, Vincent, Théo, Patel, Chirag J. 2023. Machine learning approaches to predict age from accelerometer records of physical activity at biobank scale. In PLOS digital health, 2, e0000176. doi:10.1371/journal.pdig.0000176. https://pubmed.ncbi.nlm.nih.gov/36812610/

4. Franke, Andre, Hampe, Jochen, Rosenstiel, Philip, Nürnberg, Peter, Schreiber, Stefan. 2007. Systematic association mapping identifies NELL1 as a novel IBD disease gene. In PloS one, 2, e691. doi:. https://pubmed.ncbi.nlm.nih.gov/17684544/