C57BL/6JCya-AU040320em1flox/Cya
Common Name:
AU040320-flox
Product ID:
S-CKO-00099
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
AU040320-flox
Strain ID
CKOCMP-100317-AU040320-B6J-VA
Gene Name
Product ID
S-CKO-00099
Gene Alias
A730047D20Rik; AAVR; Kiaa0319l
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
4
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-AU040320em1flox/Cya mice (Catalog S-CKO-00099) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000047431
NCBI RefSeq
NM_133886
Target Region
Exon 3
Size of Effective Region
~1.4 kb
Detailed Document
Overview of Gene Research
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.
References：
1. Pillay, S, Meyer, N L, Puschnik, A S, Chapman, M S, Carette, J E. 2016. An essential receptor for adeno-associated virus infection. In Nature, 530, 108-12. doi:10.1038/nature16465. https://pubmed.ncbi.nlm.nih.gov/26814968/
2. Guidi, Luiz G, Holloway, Zoe G, Arnoult, Christophe, Molnár, Zoltán, Velayos-Baeza, Antonio. 2018. AU040320 deficiency leads to disruption of acrosome biogenesis and infertility in homozygous mutant mice. In Scientific reports, 8, 10379. doi:10.1038/s41598-018-28666-6. https://pubmed.ncbi.nlm.nih.gov/29991750/
3. Guidi, Luiz G, Mattley, Jane, Martinez-Garay, Isabel, Velayos-Baeza, Antonio, Molnár, Zoltán. . Knockout Mice for Dyslexia Susceptibility Gene Homologs KIAA0319 and KIAA0319L have Unaffected Neuronal Migration but Display Abnormal Auditory Processing. In Cerebral cortex (New York, N.Y. : 1991), 27, 5831-5845. doi:10.1093/cercor/bhx269. https://pubmed.ncbi.nlm.nih.gov/29045729/
4. Wu, Fan, Chen, Guisheng, Hu, Rui, Sha, Suhua, Zheng, Yiqing. 2025. AAVR Expression is Essential for AAV Vector Transduction in Sensory Hair Cells. In Advanced science (Weinheim, Baden-Wurttemberg, Germany), , e2408873. doi:10.1002/advs.202408873. https://pubmed.ncbi.nlm.nih.gov/39776318/
Quality Control Standard
Sperm Test
Pre-cryopreservation: Measurement of sperm concentration, determination of sperm viability.
Post-cryopreservation: A vial of cryopreserved sperms is selected for in-vitro fertilization from each batch.
Environmental Standards:SPF
Available Region:Global
Source:Cyagen