C57BL/6JCya-Aipl1em1/Cya
Common Name:
Aipl1-KO
Product ID:
S-KO-19492
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Aipl1-KO
Strain ID
KOCMP-114230-Aipl1-B6J-VB
Gene Name
Product ID
S-KO-19492
Gene Alias
A930007I01Rik
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
11
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Aipl1em1/Cya mice (Catalog S-KO-19492) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000048207
NCBI RefSeq
NM_053245
Target Region
Exon 3~5
Size of Effective Region
~1.9 kb
Detailed Document
Overview of Gene Research
Aryl hydrocarbon receptor interacting protein-like 1 (AIPL1) is a photoreceptor-specific molecular co-chaperone. It interacts with molecular chaperones HSP90 and HSP70 to facilitate the correct folding and assembly of the retinal cGMP phosphodiesterase (PDE6) holoenzyme, which is crucial for the phototransduction cascade. Mutations in AIPL1 are linked to Leber congenital amaurosis (LCA), a severe early-onset blinding disease [2].
Mouse models have revealed that AIPL1 is important for the stability and function of heteromeric phosphodiesterase 6 (PDE6) [1]. In zebrafish, the aipl1b gene, which is cone-specific, is required for cone survival as cone photoreceptors in the aipl1b mutant (gosh) undergo progressive degeneration. Also, the cone-specific subunit of cGMP phosphodiesterase 6 (Pde6c) and cone-specific guanylate cyclase, zGc3, are decreased in the gosh mutant, indicating the interdependence of cGMP metabolism regulators between Aipl1, Pde6c, and Gc3 in photoreceptors [3].
In conclusion, AIPL1 is essential for the stability and function of key components in the phototransduction pathway, especially PDE6. The study of AIPL1 in genetic models like mice and zebrafish has provided insights into its role in photoreceptor cell survival and function, and its association with severe blinding diseases such as Leber congenital amaurosis.
References：
1. Kolandaivelu, Saravanan, Ramamurthy, Visvanathan. . AIPL1 protein and its indispensable role in cone photoreceptor function and survival. In Advances in experimental medicine and biology, 801, 43-8. doi:10.1007/978-1-4614-3209-8_6. https://pubmed.ncbi.nlm.nih.gov/24664679/
2. Sacristan-Reviriego, Almudena, van der Spuy, Jacqueline. . The Leber Congenital Amaurosis-Linked Protein AIPL1 and Its Critical Role in Photoreceptors. In Advances in experimental medicine and biology, 1074, 381-386. doi:10.1007/978-3-319-75402-4_47. https://pubmed.ncbi.nlm.nih.gov/29721967/
3. Iribarne, Maria, Nishiwaki, Yuko, Nakamura, Shohei, Oguri, Eri, Masai, Ichiro. 2017. Aipl1 is required for cone photoreceptor function and survival through the stability of Pde6c and Gc3 in zebrafish. In Scientific reports, 7, 45962. doi:10.1038/srep45962. https://pubmed.ncbi.nlm.nih.gov/28378769/
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