AU040320-flox Mouse

AU040320, also known as KIAA0319L and AAV receptor (AAVR), is a type I transmembrane protein. It is essential for adeno-associated virus (AAV) infection as it directly binds to AAV particles and serves as a critical host factor for all tested AAV serotypes [1]. In addition, it may be involved in processes related to acrosome biogenesis in spermatozoa and has been proposed to play a role in neuronal migration and auditory processing [2,3].

Gene knockout (KO) mouse models have been crucial in understanding the function of AU040320. Homozygous mutant male mice lacking AU040320 are infertile with a globozoospermia-like phenotype, as proacrosomal vesicles fail to coalesce into a single acrosomal vesicle [2]. Also, Au040320-KO mice display suprathreshold deficits in wave III amplitude in click-evoked auditory brainstem responses, suggesting disrupted firing and/or synchrony of activity in the auditory brainstem [3]. In sensory hair cells, AAVR (AU040320) expression is essential for AAV vector transduction, and its knockout inhibits AAV transduction in vivo [4].

In conclusion, AU040320 plays a vital role in AAV infection, acrosome biogenesis, and auditory processing. The use of KO mouse models has significantly contributed to understanding its functions in these areas, which may have implications for gene therapy (related to AAV vectors), infertility research, and understanding auditory system disorders.