Tsc1-Flox

品系全名

C57BL/6JSmo-Tsc1tm1(flox)Smoc

目录号

NM-CKO-200231

品系状态

活体

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基因信息

基因名
Tsc1

基因曾用名

-

NCBI ID

64930

MGI ID

1929183

Ensembl ID

ENSMUSG00000026812

Pubmed

Tsc1

人类同源基因

TSC1

品系描述

在Tsc1基因exon 17-18两侧分别插入loxP位点，建立Tsc1基因条件性敲除小鼠模型。
应用领域：mTOR信号传导和呼吸电子运输，化学渗透耦合产生的ATP合成以及蛋白质解偶联产生的热量相关研究

疾病预测

结节性硬化症
Tuberous Sclerosis

近似模型的表型

MGI:3588988
注：该品系与Myl2-Cre工具鼠交配才可能获得预期表型

参考文献

Meikle L, McMullen JR, Sherwood MC, Lader AS, Walker V, Chan JA, Kwiatkowski DJ, A mouse model of cardiac rhabdomyoma generated by loss of Tsc1 in ventricular myocytes. Hum Mol Genet. 2005 Feb 1;14(3):429-35

结节性硬化症
Tuberous Sclerosis

近似模型的表型

MGI:3802545
注：该品系与Syn1-cre工具鼠交配才可能获得预期表型

参考文献

Meikle L, Pollizzi K, Egnor A, Kramvis I, Lane H, Sahin M, Kwiatkowski DJ, Response of a neuronal model of tuberous sclerosis to mammalian target of rapamycin (mTOR) inhibitors: effects on mTORC1 and Akt signaling lead to improved survival and function. J Neurosci. 2008 May 21;28(21):5422-32

结节性硬化症
Tuberous Sclerosis

近似模型的表型

MGI:3802584
注：该品系与GFAP-cre工具鼠交配才可能获得预期表型

参考文献

Zeng LH, Ouyang Y, Gazit V, Cirrito JR, Jansen LA, Ess KC, Yamada KA, Wozniak DF, Holtzman DM, Gutmann DH, Wong M, Abnormal glutamate homeostasis and impaired synaptic plasticity and learning in a mouse model of tuberous sclerosis complex. Neurobiol Dis. 2007 Nov;28(2):184-96

眼前节发育不全
Anterior Segment Dysgenesis

近似模型的表型

MGI:6295837
注：该品系与Lhx2-cre工具鼠交配才可能获得预期表型

参考文献

Hagglund AC, Jones I, Carlsson L, A novel mouse model of anterior segment dysgenesis (ASD): conditional deletion of Tsc1 disrupts ciliary body and iris development. Dis Model Mech. 2017 Mar 01;10(3):245-257

自闭症谱系障碍
Autism Spectrum Disorder

近似模型的表型

MGI:5641483
注：该品系与Pcp2-cre工具鼠交配才可能获得预期表型

参考文献

Tsai PT, Hull C, Chu Y, Greene-Colozzi E, Sadowski AR, Leech JM, Steinberg J, Crawley JN, Regehr WG, Sahin M, Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice. Nature. 2012 Aug 30;488(7413):647-51

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