C57BL/6JCya-Naa15em1/Cya
Common Name:
Naa15-KO
Product ID:
S-KO-18854
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Naa15-KO
Strain ID
KOCMP-74838-Naa15-B6J-VB
Gene Name
Product ID
S-KO-18854
Gene Alias
5730450D16Rik; 6330400I15; ASTBDN; Narg1; Tbdn-1; mNAT1
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
3
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Naa15em1/Cya mice (Catalog S-KO-18854) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000029303
NCBI RefSeq
NM_053089
Target Region
Exon 4~5
Size of Effective Region
~1.5 kb
Detailed Document
Overview of Gene Research
NAA15, an auxiliary subunit of the N-terminal acetyltransferase A (NatA) complex, partners with the catalytic subunit NAA10. N-alpha-acetylation, a common co-translational protein modification essential for normal cell function in humans, is carried out by the NatA complex [1].
Clinical studies of individuals with NAA15 variants have shown a range of phenotypes. These include variable levels of intellectual disability, delayed speech and motor milestones, autism spectrum disorder, mild craniofacial dysmorphology, congenital cardiac anomalies, and seizures [1]. Some patients may also present with mild/moderate developmental delay, with possible catch-up developmental trajectories [2]. Additionally, NAA15 variants have been associated with pediatric hypertrophic cardiomyopathy [3].
In conclusion, NAA15 is crucial for the NatA-mediated N-terminal acetylation pathway, which is essential for normal human development. The study of individuals with NAA15 variants has revealed its role in various neurodevelopmental and cardiac disorders, highlighting its significance in understanding the pathophysiology of these conditions.
References：
1. Cheng, Hanyin, Dharmadhikari, Avinash V, Varland, Sylvia, Meng, Linyan, Lyon, Gholson J. 2018. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. In American journal of human genetics, 102, 985-994. doi:10.1016/j.ajhg.2018.03.004. https://pubmed.ncbi.nlm.nih.gov/29656860/
2. Tian, Yu, Xie, Hua, Yang, Shenghai, Chen, Xiaoli, Wang, Lin. 2022. Possible Catch-Up Developmental Trajectories for Children with Mild Developmental Delay Caused by NAA15 Pathogenic Variants. In Genes, 13, . doi:10.3390/genes13030536. https://pubmed.ncbi.nlm.nih.gov/35328089/
3. Ritter, Alyssa, Berger, Justin H, Deardorff, Matthew, Medne, Livija, Ahrens-Nicklas, Rebecca C. 2020. Variants in NAA15 cause pediatric hypertrophic cardiomyopathy. In American journal of medical genetics. Part A, 185, 228-233. doi:10.1002/ajmg.a.61928. https://pubmed.ncbi.nlm.nih.gov/33103328/
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