Sox5-flox 基因敲除小鼠

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产品名称

Sox5-flox 基因敲除小鼠

产品编号

S-CKO-05187

品系全称

C57BL/6JCya-Sox5em1flox/Cya

品系背景

C57BL/6JCya

品系编号

CKOCMP-20678-Sox5-B6J-VA

品系状态

使用本品系发表的文献需注明: Sox5-flox 基因敲除小鼠 mice (Strain S-CKO-05187) 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
SRY (sex determining region Y)-box 5
基因别称
A730017D01Rik
染色体号
Chr 6 (Mouse)
转录本 ID
NCBI: NM_011444 | Ensembl: ENSMUST00000038815
修饰方式
条件性基因敲除
靶向范围
Exon 10
敲除长度
~0.9 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:98367Homozygous null mice fail to breathe and die at birth exhibiting a narrow thoracic cage, irregularly mineralized sternum, cleft secondary palate, and delayed bone mineralization. Homozygotes for a transposon induced insertion die shortly after birth exhibiting cyanosis and respiratory distress.
Sox5是一种编码转录因子的基因,其表达产物属于Sox家族。Sox家族成员是一类含有高迁移率族(HMG)DNA结合结构域的转录因子,在多种生物学过程中发挥重要作用,包括细胞命运决定、分化和发育[3]。Sox5在胚胎发育过程中表达,特别是在软骨生成和软骨细胞分化中起着重要作用[1,6]。此外,Sox5还在神经系统发育中发挥作用,其基因缺陷会导致Lamb-Shaffer综合征(LSS),这是一种神经发育障碍,表现为智力障碍、语言发育迟缓、行为问题等[2,5,7]。Sox5的表达也与肿瘤发生有关,Sox5-RAF1融合基因被发现存在于巨先天性痣中,并具有致癌作用[4]。因此,Sox5在多种生物学过程中发挥着重要作用,其功能和调控机制值得深入研究。

参考文献:
1. Gkirgkinoudis, Athanasios, Tatsi, Christina, DeWard, Stephanie J, Faucz, Fabio R, Stratakis, Constantine A. 2020. A SOX5 gene variant as a possible contributor to short stature. In Endocrinology, diabetes & metabolism case reports, 2020, . doi:10.1530/EDM-20-0133. https://pubmed.ncbi.nlm.nih.gov/33434147/
2. Zawerton, Ash, Mignot, Cyril, Sigafoos, Ashley, Clark, Karl J, Depienne, Christel. 2019. Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. In Genetics in medicine : official journal of the American College of Medical Genetics, 22, 524-537. doi:10.1038/s41436-019-0657-0. https://pubmed.ncbi.nlm.nih.gov/31578471/
3. Song, Haengseok, Park, Keun-Hong. 2020. Regulation and function of SOX9 during cartilage development and regeneration. In Seminars in cancer biology, 67, 12-23. doi:10.1016/j.semcancer.2020.04.008. https://pubmed.ncbi.nlm.nih.gov/32380234/
4. Vinyals, Antònia, Ferreres, Josep R, Calbet-Llopart, Neus, Puig-Butillé, Joan Anton, Fabra, Àngels. 2022. Oncogenic properties via MAPK signaling of the SOX5-RAF1 fusion gene identified in a wild-type NRAS/BRAF giant congenital nevus. In Pigment cell & melanoma research, 35, 450-460. doi:10.1111/pcmr.13044. https://pubmed.ncbi.nlm.nih.gov/35587097/
5. Arroyo-Carrera, Ignacio, de Zaldívar-Tristancho, M Solo, Martín-Fernández, Rebeca, López-Lafuente, Amparo, Rodríguez-Revenga, Laia. . [Microdeletion 12p12 involving SOX5 gene: a new syndrome with developmental delay]. In Revista de neurologia, 60, 453-6. doi:. https://pubmed.ncbi.nlm.nih.gov/25952600/
6. Rescan, Pierre-Yves, Ralliere, Cecile. . A Sox5 gene is expressed in the myogenic lineage during trout embryonic development. In The International journal of developmental biology, 54, 913-8. doi:10.1387/ijdb.092893pr. https://pubmed.ncbi.nlm.nih.gov/20336612/
7. Tenorio-Castano, Jair, Gómez, Ángela Sánchez-Algaba, Coronado, Mónica, Nevado, Julián, Lapunzina, Pablo. 2023. Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency. In Clinical genetics, 104, 637-647. doi:10.1111/cge.14423. https://pubmed.ncbi.nlm.nih.gov/37702321/