Zmpste24-KO

系統名

C57BL/6Smoc-Zmpste24em1Smoc

SMOC番号

NM-KO-18011

維持形態

Repository Live

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遺伝子の概要

Gene Symbol
Zmpste24

Synonyms

MADB; FACE1; STE24; Face-1; Ste24p; D030046F19; A530043O15Rik

NCBI ID

230709

MGI ID

1890508

Ensembl ID

ENSMUSG00000043207

Pubmed

Zmpste24

Human Ortholog

ZMPSTE24

説明

Exon4-6 of Zmpste24 gene were deleted to generate Zmpste24 knockout mice.
応用分野：premature aging disease Hutchinson-Gilford progeria syndrome (HGPS)

病気の予測

Achalasia

表現型

MGI:5754490
Note：The expected phenotype(s) may be observed in the above-mentioned mice that bred with Lmna-KO(NM-K0-210380) mice.

参考文献

Yang SH, Procaccia S, Jung HJ, Nobumori C, Tatar A, Tu Y, Bayguinov YR, Hwang SJ, Tran D, Ward SM, Fong LG, Young SG, Mice that express farnesylated versions of prelamin A in neurons develop achalasia. Hum Mol Genet. 2015 May 15;24(10):2826-40

Familial Partial Lipodystrophy

表現型

MGI:3621007

参考文献

Pendas AM, Zhou Z, Cadinanos J, Freije JM, Wang J, Hultenby K, Astudillo A, Wernerson A, Rodriguez F, Tryggvason K, Lopez-Otin C, Defective prelamin A processing and muscular and adipocyte alterations in Zmpste24 metalloproteinase-deficient mice. Nat Genet. 2002 May;31(1):94-9

Progeria

表現型

MGI:3620907

参考文献

Fong LG, Ng JK, Meta M, Cote N, Yang SH, Stewart CL, Sullivan T, Burghardt A, Majumdar S, Reue K, Bergo MO, Young SG, Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient mice. Proc Natl Acad Sci U S A. 2004 Dec 28;101(52):18111-6

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