C57BL/6JCya-Aagabem1/Cya
Common Name:
Aagab-KO
Product ID:
S-KO-19137
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Aagab-KO
Strain ID
KOCMP-66939-Aagab-B6J-VB
Gene Name
Product ID
S-KO-19137
Gene Alias
2310007F21Rik; p34
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
9
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Aagabem1/Cya mice (Catalog S-KO-19137) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000041551
NCBI RefSeq
NM_025857
Target Region
Exon 6
Size of Effective Region
~1.2 kb
Detailed Document
Overview of Gene Research
Aagab, also known as alpha-and gamma-adaptin-binding protein (p34), is an assembly chaperone with crucial functions in intracellular membrane trafficking. It plays a key role in regulating the assembly of AP1 and AP2 clathrin adaptors, which are involved in clathrin-mediated transport between the trans-Golgi network and the endosome, as well as clathrin-mediated endocytosis [1,2]. Genetic models, such as zebrafish mutants, have been valuable in studying Aagab's functions.
In zebrafish, aagab loss-of-function mutants show impaired swimming and early larval mortality. The mutants display subdued calcium responses and local field potential in optic tectal neurons, along with reduced neurotransmitter release. Overexpressing aagab mRNA or nervous stimulant treatment in mutants can restore normal neurotransmitter release, calcium responses, swimming ability, and survival [3]. In addition, AAGAB mutations are associated with punctate palmoplantar keratoderma type 1 (PPKP1), an autosomal dominant skin disease. Different AAGAB loss-of-function mutations have been identified in families with PPPK1, and in some families, there may be an association with cancer [4].
In conclusion, Aagab is essential for regulating neural activity during zebrafish larval development. Its role as an assembly chaperone for AP1 and AP2 adaptors is also crucial for proper intracellular membrane trafficking. The study of Aagab using genetic models like zebrafish mutants has provided insights into its functions in neural development and its association with diseases such as PPKP1, which may help in understanding the pathogenesis of related disorders.
References:
1. Wan, Chun, Crisman, Lauren, Wang, Bing, Yin, Qian, Shen, Jingshi. 2021. AAGAB is an assembly chaperone regulating AP1 and AP2 clathrin adaptors. In Journal of cell science, 134, . doi:10.1242/jcs.258587. https://pubmed.ncbi.nlm.nih.gov/34494650/
2. Gulbranson, Daniel R, Crisman, Lauren, Lee, MyeongSeon, Yu, Haijia, Shen, Jingshi. 2019. AAGAB Controls AP2 Adaptor Assembly in Clathrin-Mediated Endocytosis. In Developmental cell, 50, 436-446.e5. doi:10.1016/j.devcel.2019.06.013. https://pubmed.ncbi.nlm.nih.gov/31353312/
3. Ding, Shihui, Aziz, Tursunjan, Meng, Anming, Jia, Shunji. 2024. Aagab is required for zebrafish larval development by regulating neural activity. In Journal of genetics and genomics = Yi chuan xue bao, 51, 630-641. doi:10.1016/j.jgg.2024.01.003. https://pubmed.ncbi.nlm.nih.gov/38253235/
4. Elhaji, Youssef, Hedlin, Cherise, Nath, Anu, Northgrave, Stacey, Hull, Peter R. 2019. AAGAB Mutations in 18 Canadian Families With Punctate Palmoplantar Keratoderma and a Possible Link to Cancer. In Journal of cutaneous medicine and surgery, 24, 28-32. doi:10.1177/1203475419878161. https://pubmed.ncbi.nlm.nih.gov/31526046/
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