Zmpste24-KO

모델명

C57BL/6Smoc-Zmpste24em1Smoc

카탈로그

NM-KO-18011

모델 상태

Embryo cryopreservation

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유전자 요약

Official 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

모델 설명

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

Disease Connection

Achalasia

Phenotype(s)

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

Reference(s)

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

Phenotype(s)

MGI:3621007

Reference(s)

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

Phenotype(s)

MGI:3620907

Reference(s)

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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