Tsc1-Flox

系統名

C57BL/6Smoc-Tsc1tm1(flox)Smoc

SMOC番号

NM-CKO-200231

維持形態

Repository Live

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遺伝子の概要

Gene Symbol
Tsc1

Synonyms

-

NCBI ID

64930

MGI ID

1929183

Ensembl ID

ENSMUSG00000026812

Pubmed

Tsc1

Human Ortholog

TSC1

説明

These mice carry loxP sites flanking exon 17-18 of Tsc1 gene. When crossed with a Cre recombinase-expressing strain, this strain is useful in eliminating tissue-specific conditional expression of Tsc1 gene.
応用分野：Research on mTOR signal transduction and respiratory electron transport, ATP synthesis produced by chemical permeation coupling, and heat produced by protein uncoupling

病気の予測

Tuberous Sclerosis

表現型

MGI:3802545
Note：The expected phenotype(s) may be observed in the above-mentioned mice that bred with Syn1-cre mice.

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

Autism Spectrum Disorder

表現型

MGI:5641483
Note：The expected phenotype(s) may be observed in the above-mentioned mice that bred with Pcp2-cre mice.

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

Tuberous Sclerosis

表現型

MGI:3588988
Note：The expected phenotype(s) may be observed in the above-mentioned mice that bred with Myl2-Cre mice.

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

Anterior Segment Dysgenesis

表現型

MGI:6295837
Note：The expected phenotype(s) may be observed in the above-mentioned mice that bred with Lhx2-cre mice.

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

Tuberous Sclerosis

表現型

MGI:3802584
Note：The expected phenotype(s) may be observed in the above-mentioned mice that bred with GFAP-cre mice.

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

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