Acan-flox Mouse
一般名
Acan-flox
製品ID
S-CKO-18430
背景情報
C57BL/6JCya
系統ID
CKOCMP-11595-Acan-B6J-VB
状況
このマウス系統を論文で使用する場合は、「Acan-flox Mouse（カタログ番号S-CKO-18430）はサイアジェンから購入しました。」と引用してください。
製品タイプ
年齢
遺伝子型
性別
数量
標準的な配送方法では、少なくとも3匹のヘテロ接合体キャリアを保証しています。ホモ接合体キャリアや指定された性別の個体の繁殖サービスも利用可能です。
基本情報
系統名
Acan-flox
系統ID
CKOCMP-11595-Acan-B6J-VB
遺伝子名
製品ID
S-CKO-18430
遺伝子別名
Agc, Agc1, CSPCP, Cspg1, b2b183Clo, cmd
遺伝子別名
C57BL/6JCya
遺伝子正式名称
aggrecan
NCBI ID
修正
Conditional knockout
染色体
Chr 7
表現型
アプリケーション
--
さらに
系統詳細
EnsemblトランスクリプトID
ENSMUST00000032835
NCBIトランスクリプトID
NM_007424
ターゲット領域
Exon 3~4
有効領域の大きさ
~2.4 kb
遺伝子研究の概要
Acan, which encodes aggrecan, is a gene of significant importance. Aggrecan is a major proteoglycan component of the extracellular matrix in the growth plate and articular cartilage. It provides the hydrated gel structure crucial for the load-bearing properties of joints and is key in cartilage and bone morphogenesis. It may also be associated with the growth hormone pathway, as suggested by some studies [4].
In adult mice, deletion of Hdac2 in parvalbumin-positive (PV+) GABAergic cells leads to reduced Acan expression in these cells. This reduction is associated with a decrease in spontaneous recovery of fear memories, enhanced bouton remodeling in PV+ cells, and reduced perineuronal net aggregation around PV+ cells in the prefrontal cortex and basolateral amygdala [1].
In addition, ACAN heterozygous mutations in humans are linked to short stature. Some patients may have early-onset osteoarthritis, brachydactyly, midfacial hypoplasia, and early growth cessation. Growth-promoting therapies like rhGH and/or GnRHa can improve the adult height of affected pediatric patients [2,3,4,5,6,7]. In horses, heterozygotes for ACAN dwarfism alleles have reduced stature [8].
In conclusion, Acan plays essential roles in cartilage and bone development, and its regulation in PV+ GABAergic cells can impact fear memory recovery. Mouse models with targeted manipulation of genes related to Acan expression, such as Hdac2, have provided insights into its role in fear-related behaviors. In the context of human and animal growth, Acan mutations are associated with short stature, highlighting its importance in growth-related biological processes.
References：
1. Lavertu-Jolin, Marisol, Chattopadhyaya, Bidisha, Chehrazi, Pegah, Pineyro, Graçiela, Di Cristo, Graziella. 2023. Acan downregulation in parvalbumin GABAergic cells reduces spontaneous recovery of fear memories. In Molecular psychiatry, 28, 2946-2963. doi:10.1038/s41380-023-02085-0. https://pubmed.ncbi.nlm.nih.gov/37131076/
2. Tang, Wei, Wu, Ke-Mi, Zhou, Qiong, Dong, Guan-Ping, Zou, Chao-Chun. . Genotype and phenotype in patients with ACAN gene variants: Three cases and literature review. In Molecular genetics & genomic medicine, 12, e2439. doi:10.1002/mgg3.2439. https://pubmed.ncbi.nlm.nih.gov/38613222/
3. Deng, Shuyun, Hou, Lele, Xia, Dan, Ouyang, Nengtai, Liang, Liyang. 2022. Description of the molecular and phenotypic spectrum in Chinese patients with aggrecan deficiency: Novel ACAN heterozygous variants in eight Chinese children and a review of the literature. In Frontiers in endocrinology, 13, 1015954. doi:10.3389/fendo.2022.1015954. https://pubmed.ncbi.nlm.nih.gov/36387899/
4. Wu, Huiping, Wang, Chaoban, Yu, Shiwen, He, Pingping, Shan, Xiaoou. 2023. Downregulation of ACAN is Associated with the Growth hormone pathway and Induces short stature. In Journal of clinical laboratory analysis, 37, e24830. doi:10.1002/jcla.24830. https://pubmed.ncbi.nlm.nih.gov/36597844/
5. Masunaga, Yohei, Ohkubo, Yumiko, Nishimura, Gen, Saitsu, Hirotomo, Ogata, Tsutomu. 2022. ACAN biallelic variants in a girl with severe idiopathic short stature. In Journal of human genetics, 67, 481-486. doi:10.1038/s10038-022-01030-3. https://pubmed.ncbi.nlm.nih.gov/35314765/
6. Liang, Hanting, Miao, Hui, Pan, Hui, Wang, Linjie, Zhu, Huijuan. . Growth-Promoting Therapies May Be Useful In Short Stature Patients With Nonspecific Skeletal Abnormalities Caused By Acan Heterozygous Mutations: Six Chinese Cases And Literature Review. In Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 26, 1255-1268. doi:10.4158/EP-2019-0518. https://pubmed.ncbi.nlm.nih.gov/33471655/
7. Wu, Su, Wang, Chunli, Cao, Qing, Gu, Wei, Li, Xiaonan. 2022. The Spectrum of ACAN Gene Mutations in a Selected Chinese Cohort of Short Stature: Genotype-Phenotype Correlation. In Frontiers in genetics, 13, 891040. doi:10.3389/fgene.2022.891040. https://pubmed.ncbi.nlm.nih.gov/35620465/
8. Graves, K T, Eberth, J E, Bailey, E. 2020. Heterozygotes for ACAN dwarfism alleles in horses have reduced stature. In Animal genetics, 51, 420-422. doi:10.1111/age.12921. https://pubmed.ncbi.nlm.nih.gov/32065671/
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