Or4c3-KO Mouse

Or4c3, an olfactory receptor gene, is involved in the detection of odorants, which is a crucial process in the olfactory sensory system. Olfactory receptors play a significant role in the initial step of olfaction, enabling organisms to detect and distinguish a wide variety of chemical stimuli in the environment. The study of Or4c3 in genetic models could potentially provide insights into the molecular mechanisms underlying olfaction [1,2].

In a study on rapid progressive glioblastoma, Or4c3 was among the top ten genes with the highest number of substitutions in the five glioblastoma samples studied, with the majority of identified somatic variants being missense substitutions [1]. In another study on familial gastroschisis, Or4c3 was predicted as having a high-impact heterozygous variation in both affected half-sisters, as well as their mother and father. Multiple interacting background modifiers involving genes like Or4c3 may regulate gastroschisis susceptibility [2].

In conclusion, Or4c3 is important for odorant detection in the olfactory system. Its genetic variations are associated with glioblastoma and gastroschisis. These findings from genetic studies suggest that Or4c3 may play a role in the molecular pathogenesis of these diseases, highlighting the value of studying Or4c3 in genetic models to understand disease mechanisms better.

References:

1. Khan, Imran, Işık, Esra Büşra, Mahfooz, Sadaf, Khan, Asif M, Hatiboglu, Mustafa Aziz. 2023. Identification of Genetic Alterations in Rapid Progressive Glioblastoma by Use of Whole Exome Sequencing. In Diagnostics (Basel, Switzerland), 13, . doi:10.3390/diagnostics13061017. https://pubmed.ncbi.nlm.nih.gov/36980325/

2. Salinas-Torres, Víctor M, Gallardo-Blanco, Hugo L, Salinas-Torres, Rafael A, Ibarra-Ramírez, Marisol, Martínez de Villarreal, Laura E. 2020. Whole exome sequencing identifies multiple novel candidate genes in familial gastroschisis. In Molecular genetics & genomic medicine, 8, e1176. doi:10.1002/mgg3.1176. https://pubmed.ncbi.nlm.nih.gov/32163230/