Adgrv1-flox Mouse

Adgrv1, also known as GPR98, MASS1, and VLGR1, encodes adhesion G protein-coupled receptor-V1. It is involved in synaptic function [2]. The ankle-link complex (ALC), which contains Adgrv1 along with USH2A, WHRN, and PDZD7, is crucial for hair cell development [1]. Adgrv1 may also be associated with regulating autophagy, as it interacts with key autophagosome components [3].

In a mouse model with the Adgrv1 Y6236fsX1 mutation (mimicking the human Y6244fsX1 deafness-associated mutation), the mutation disrupts the interaction between Adgrv1 and other ALC components. This leads to stereocilia disorganization and mechanoelectrical transduction (MET) deficits. Adgrv1 normally inhibits WHRN phosphorylation through regional cAMP-PKA signaling, regulating USH2A ubiquitination and stability. The mutant Adgrv1 fails to do so [1].

In conclusion, Adgrv1 plays essential roles in hair cell development through its involvement in the ALC and in regulating autophagy. The study of Adgrv1 knockout or conditional knockout mouse models, like the Adgrv1 Y6236fsX1 mutant mice, has provided insights into its role in conditions such as deafness, highlighting its significance in understanding the underlying mechanisms of related diseases [1,3].