Ap3d1-flox 基因敲除小鼠

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产品名称

Ap3d1-flox 基因敲除小鼠

产品编号

S-CKO-01236

品系全称

C57BL/6JCya-Ap3d1em1flox/Cya

品系背景

C57BL/6JCya

品系编号

CKOCMP-11776-Ap3d1-B6J-VA

品系状态

使用本品系发表的文献需注明: Ap3d1-flox 基因敲除小鼠 mice (Strain S-CKO-01236) were purchased from Cyagen.
交付类型
周龄
性别
基因型
数量
cKO小鼠库模型

基本信息

基因研究概述

质控标准

基因
基因全称
adaptor-related protein complex 3, delta 1 subunit
基因别称
Ap3d,Bolvr,mBLVR1,mh,mocha
染色体号
Chr 10 (Mouse)
转录本 ID
NCBI: NM_007460 | Ensembl: ENSMUST00000020420
修饰方式
条件性基因敲除
靶向范围
Exon 5~6
敲除长度
~1.6 kb
品系说明
该品系是基于策略设计时的数据库信息制作而成,建议您在购买前查询最新的数据库和相关文献,以获取最准确的表型信息。
表型提示
MGI:107734Mutant mice show coat and eye color dilution, platelet defects, lysosomal abnormalities, inner ear degeneration and neurological defects and model Hermansky-Pudlak storage pool deficiency syndrome.
AP3D1,也称为AP-3复合体亚基δ基因,编码适配蛋白复合物3的δ亚基,该复合物在细胞的内吞作用和分泌途径中起着关键作用。AP-3复合体负责从高尔基体向内体和溶酶体运输特定的膜蛋白和溶酶体酶。AP3D1基因突变与多种疾病相关,包括Hermansky-Pudlak综合征(HPS)类型10、免疫缺陷和癫痫等。

HPS是一组罕见的常染色体隐性遗传疾病,表现为部分白化病和血小板功能障碍。HPS类型10是一种严重的HPS,除了白化病和血小板功能障碍外,还伴随有神经发育迟缓、癫痫和免疫缺陷等症状。AP3D1基因突变导致AP-3复合体功能障碍,从而影响细胞内吞作用和分泌途径,导致溶酶体功能障碍和黑色素生成异常。

除了HPS类型10外,AP3D1基因突变还与免疫缺陷相关。AP3D1基因突变导致AP-3复合体功能障碍,从而影响免疫细胞的内吞作用和分泌途径,导致免疫细胞功能障碍和免疫缺陷。

此外,AP3D1基因还与癌症相关。研究表明,AP3D1基因在多种癌症中表达异常,包括卵巢癌和结直肠癌。AP3D1基因的异常表达可能影响细胞的生长、分化和代谢,从而促进癌症的发生和发展。

综上所述,AP3D1基因编码的AP-3复合体亚基δ在细胞的内吞作用和分泌途径中起着关键作用。AP3D1基因突变与多种疾病相关,包括HPS类型10、免疫缺陷和癌症等。AP3D1基因的研究有助于深入理解细胞内吞作用和分泌途径的生物学功能和疾病发生机制,为疾病的治疗和预防提供新的思路和策略[1,2,3,4,5,6,7,8]。

参考文献:
1. Neuffer, Sam J, Beltran-Cardona, David, Jimenez-Perez, Kevin, New, Leslie, Cooper, Cynthia D. . AP-3 complex subunit delta gene, ap3d1, regulates melanogenesis and melanophore survival via autophagy in zebrafish (Danio rerio). In Pigment cell & melanoma research, 35, 495-505. doi:10.1111/pcmr.13055. https://pubmed.ncbi.nlm.nih.gov/35816398/
2. Du, Wan, Hua, Fang, Li, Xiong, Fang, Jing-Yuan, Zou, Weiping. 2021. Loss of Optineurin Drives Cancer Immune Evasion via Palmitoylation-Dependent IFNGR1 Lysosomal Sorting and Degradation. In Cancer discovery, 11, 1826-1843. doi:10.1158/2159-8290.CD-20-1571. https://pubmed.ncbi.nlm.nih.gov/33627378/
3. Drasbek, Kim Ryun, Holm, Mai Marie, Delenclos, Marion, Jensen, Kimmo. 2008. Mapping of the spontaneous deletion in the Ap3d1 gene of mocha mice: fast and reliable genotyping. In BMC research notes, 1, 119. doi:10.1186/1756-0500-1-119. https://pubmed.ncbi.nlm.nih.gov/19032734/
4. Hildyard, John C W, Wells, Dominic J, Piercy, Richard J. 2022. Identification of qPCR reference genes suitable for normalising gene expression in the developing mouse embryo. In Wellcome open research, 6, 197. doi:10.12688/wellcomeopenres.16972.2. https://pubmed.ncbi.nlm.nih.gov/35509373/
5. Aykut, Ayca, Durmaz, Asude, Karaca, Neslihan, Ardeniz, Omur, Kutukculer, Necil. 2024. Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants. In Immunologic research, 72, 714-726. doi:10.1007/s12026-024-09477-6. https://pubmed.ncbi.nlm.nih.gov/38644452/
6. Fang, Li, Xu, Xiangfeng, Lu, Yao, Wu, Yanying, Li, Jiajia. . Long noncoding RNA SNHG8 accelerates acute gouty arthritis development by upregulating AP3D1 in mice. In Bioengineered, 12, 9803-9815. doi:10.1080/21655979.2021.1995579. https://pubmed.ncbi.nlm.nih.gov/34874227/
7. Li, Huiqin, Li, Ming, Tang, Chunhui, Xu, Liang. . Screening and prognostic value of potential biomarkers for ovarian cancer. In Annals of translational medicine, 9, 1007. doi:10.21037/atm-21-2627. https://pubmed.ncbi.nlm.nih.gov/34277807/
8. Mohammed, Mohammed, Al-Hashmi, Nadia, Al-Rashdi, Samiya, Al-Riyami, Marwa, Al-Maawali, Almundher. 2018. Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder. In European journal of medical genetics, 62, 103583. doi:10.1016/j.ejmg.2018.11.017. https://pubmed.ncbi.nlm.nih.gov/30472485/