C57BL/6JCya-Ap3d1em1/Cya
Common Name
Ap3d1-KO
Product ID
S-KO-17743
Backgroud
C57BL/6JCya
Strain ID
KOCMP-11776-Ap3d1-B6J-VB
Status
When using this mouse strain in a publication, please cite “Ap3d1-KO Mouse (Catalog S-KO-17743) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
The standard delivery applies for a guaranteed minimum of three heterozygous carriers. Breeding services for homozygous carriers and/or specified sex are available.
Basic Information
Strain Name
Ap3d1-KO
Strain ID
KOCMP-11776-Ap3d1-B6J-VB
Gene Name
Product ID
S-KO-17743
Gene Alias
mh, Ap3d, Bolvr, mocha, mBLVR1
Background
C57BL/6JCya
Gene Full Name
adaptor-related protein complex 3, delta 1 subunit
Modification
Conventional knockout
NCBI ID
Phenotype
Chromosome
Chr 10 (Mouse)
Application
--
Datasheet
Strain Description
Ensembl Transcript ID
ENSMUST00000020420
NCBI Transcript ID
NM_007460
Target Region
Exon 5~6
Size of Effective Region
~1.6 kb
Overview of Gene Research
Ap3d1, encoding the AP-3δ subunit of the adaptor-related protein complex 3 (AP-3), is crucial for the biogenesis, function, and trafficking of secretory lysosomes [5,7]. The AP-3 complex is involved in sorting proteins to lysosomes and lysosome-related organelles [8]. Genetic studies on Ap3d1 can provide insights into its functions in normal biological processes and disease mechanisms.
In zebrafish, Ap3d1 knockout recapitulates the crasher mutant phenotype, with significant expression changes in melanogenesis genes dct and tyrp1b, and it promotes melanophore survival by limiting excessive autophagy [2]. In mice, loss of optineurin leads to AP3D1-mediated lysosomal sorting and degradation of palmitoylated IFNGR1, driving cancer immune evasion and immunotherapy resistance in colorectal cancer [1]. Mutations in human AP3D1 are associated with Hermansky-Pudlak syndrome type 10 (HPS10), characterized by oculocutaneous albinism, immunodeficiency, neurodevelopmental delay, hearing loss, and neurological abnormalities [4,5,7]. Serum anti-AP3D1 antibodies are risk factors for acute ischemic stroke related to atherosclerosis [3]. Also, in a mouse model of acute gouty arthritis, lncRNA SNHG8 accelerates the disease development by upregulating AP3D1 in an miR-542-3p-dependent way [6].
In conclusion, Ap3d1 is essential for lysosome-related processes. Gene-knockout models in zebrafish and mice, along with human genetic studies, have revealed its role in melanogenesis, cancer immune evasion, HPS10-related disorders, atherosclerosis-related stroke, and acute gouty arthritis. Understanding Ap3d1 functions can potentially lead to new therapeutic strategies for these associated diseases.
References：
1. 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/
2. 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/
3. Li, Shu-Yang, Yoshida, Yoichi, Kobayashi, Eiichi, Iwadate, Yasuo, Hiwasa, Takaki. 2021. Serum anti-AP3D1 antibodies are risk factors for acute ischemic stroke related with atherosclerosis. In Scientific reports, 11, 13450. doi:10.1038/s41598-021-92786-9. https://pubmed.ncbi.nlm.nih.gov/34188129/
4. Frohne, Alexandra, Koenighofer, Martin, Cetin, Hakan, Pickl, Winfried F, Parzefall, Thomas. 2022. A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation. In Human genetics, 142, 1077-1089. doi:10.1007/s00439-022-02506-0. https://pubmed.ncbi.nlm.nih.gov/36445457/
5. 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/
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. Ammann, Sandra, Schulz, Ansgar, Krägeloh-Mann, Ingeborg, Hennies, Hans Christian, Ehl, Stephan. 2016. Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. In Blood, 127, 997-1006. doi:10.1182/blood-2015-09-671636. https://pubmed.ncbi.nlm.nih.gov/26744459/
8. Hirst, J, Robinson, M S. . Clathrin and adaptors. In Biochimica et biophysica acta, 1404, 173-93. doi:. https://pubmed.ncbi.nlm.nih.gov/9714795/
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
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