Fbrsl1-KO 基因敲除小鼠

下单100%中奖,最高可得千元京东卡
复苏/繁育服务
产品名称

Fbrsl1-KO 基因敲除小鼠

产品编号

S-KO-09793

品系全称

C57BL/6JCya-Fbrsl1em1/Cya

品系背景

C57BL/6JCya

品系编号

KOCMP-381668-Fbrsl1-B6J-VA

品系状态

使用本品系发表的文献需注明: Fbrsl1-KO 基因敲除小鼠 mice (Strain S-KO-09793) were purchased from Cyagen.
交付类型
周龄
性别
基因型
数量

基本信息

基因研究概述

质控标准

基因
基因全称
fibrosin-like 1
基因别称
2410025L10Rik,Gm1049,Gm29766,mKIAA1545
染色体号
Chr 5 (Mouse)
转录本 ID
NCBI: NM_001142642.1 | Ensembl: ENSMUST00000069483
修饰方式
全身性基因敲除
靶向范围
Exon 7~18
敲除长度
~8644 bp
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
FBRSL1(Fibrosin-like 1)基因是一种非OMIM基因,属于AUTS2基因家族,与AUTS2(Activator of Transcription and Developmental Regulator)和FBRS(Fibrosin 1)共同构成。FBRSL1和AUTS2在进化上关系更为密切,尽管它们具有同源关系,但FBRSL1的确切功能尚不清楚。FBRSL1可能与AUTS2在神经发生和转录调控方面共享功能。

FBRSL1基因的突变可能导致一种新型的综合征,包括智力障碍、小头畸形、面部畸形、腭裂、皮肤皱纹、骨骼异常和挛缩、出生后生长迟缓、全球发育迟缓、呼吸问题、听力障碍和心脏缺陷等。FBRSL1蛋白可能参与神经发育,因为其与AUTS2具有同源性,并且具有独特的神经元表达谱。FBRSL1还可能参与神经发生和转录调控网络,这些网络协调基因表达。此外,FBRSL1还与DNA甲基化模式有关,这些模式与不同的遗传综合征相关。

FBRSL1基因的突变可能导致心脏缺陷。在Xenopus laevis中,Fbrsl1的表达与心脏发育相关,Fbrsl1的敲低会导致心脏发育不良。FBRSL1蛋白的不同亚型可能具有不同的功能,其中短N端亚型对于心脏发育至关重要。FBRSL1基因的突变还可能与其他疾病有关,如皮肤癌和哮喘。

综上所述,FBRSL1是一种重要的基因,参与神经发育和转录调控,其突变可能导致多种疾病,包括心脏缺陷、智力障碍、小头畸形、面部畸形等。FBRSL1基因的研究有助于深入理解其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][9][10]

参考文献:
1. Bukvic, Nenad, De Rinaldis, Marta, Chetta, Massimiliano, Sadikovic, Bekim, Viggiano, Luigi. 2024. De Novo Pathogenic Variant in FBRSL1, Non OMIM Gene Paralogue AUTS2, Causes a Novel Recognizable Syndromic Manifestation with Intellectual Disability; An Additional Patient and Review of the Literature. In Genes, 15, . doi:10.3390/genes15070826. https://pubmed.ncbi.nlm.nih.gov/39062605/
2. Pauli, Silke, Berger, Hanna, Ufartes, Roser, Borchers, Annette. 2021. Comparing a Novel Malformation Syndrome Caused by Pathogenic Variants in FBRSL1 to AUTS2 Syndrome. In Frontiers in cell and developmental biology, 9, 779009. doi:10.3389/fcell.2021.779009. https://pubmed.ncbi.nlm.nih.gov/34805182/
3. Berger, Hanna, Gerstner, Sarah, Horstmann, Marc-Frederik, Pauli, Silke, Borchers, Annette. 2024. Fbrsl1 is required for heart development in Xenopus laevis and de novo variants in FBRSL1 can cause human heart defects. In Disease models & mechanisms, 17, . doi:10.1242/dmm.050507. https://pubmed.ncbi.nlm.nih.gov/38501224/
4. Ufartes, Roser, Berger, Hanna, Till, Katharina, Borchers, Annette, Pauli, Silke. 2020. De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome. In Human genetics, 139, 1363-1379. doi:10.1007/s00439-020-02175-x. https://pubmed.ncbi.nlm.nih.gov/32424618/
5. Kondrychyn, Igor, Robra, Lena, Thirumalai, Vatsala. 2017. Transcriptional Complexity and Distinct Expression Patterns of auts2 Paralogs in Danio rerio. In G3 (Bethesda, Md.), 7, 2577-2593. doi:10.1534/g3.117.042622. https://pubmed.ncbi.nlm.nih.gov/28626003/
6. Biel, Alecia, Castanza, Anthony S, Rutherford, Ryan, Hester, Mark E, Hevner, Robert F. 2022. AUTS2 Syndrome: Molecular Mechanisms and Model Systems. In Frontiers in molecular neuroscience, 15, 858582. doi:10.3389/fnmol.2022.858582. https://pubmed.ncbi.nlm.nih.gov/35431798/
7. Hou, Xiaocan, Liang, Feng, Li, Jiaoxing, Qi, Tiewei, Sheng, Wenli. 2024. Mapping cell diversity in human sporadic cerebral cavernous malformations. In Gene, 924, 148605. doi:10.1016/j.gene.2024.148605. https://pubmed.ncbi.nlm.nih.gov/38788816/
8. Torres, Salina M, Luo, Li, Lilyquist, Jenna, Lazovich, Deann, Berwick, Marianne. 2013. DNA repair variants, indoor tanning, and risk of melanoma. In Pigment cell & melanoma research, 26, 677-84. doi:10.1111/pcmr.12117. https://pubmed.ncbi.nlm.nih.gov/23659246/
9. Fawcett, Katherine A, Demidov, German, Shrine, Nick, Wain, Louise V, Hollox, Edward J. 2022. Exome-wide analysis of copy number variation shows association of the human leukocyte antigen region with asthma in UK Biobank. In BMC medical genomics, 15, 119. doi:10.1186/s12920-022-01268-y. https://pubmed.ncbi.nlm.nih.gov/35597955/
10. Fazio, Grazia, Bresolin, Silvia, Silvestri, Daniela, Biondi, Andrea, Cazzaniga, Giovanni. 2022. PAX5 fusion genes are frequent in poor risk childhood acute lymphoblastic leukaemia and can be targeted with BIBF1120. In EBioMedicine, 83, 104224. doi:10.1016/j.ebiom.2022.104224. https://pubmed.ncbi.nlm.nih.gov/35985167/